{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:52Z","timestamp":1761101812929},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2007,11,14]],"date-time":"2007-11-14T00:00:00Z","timestamp":1194998400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Sotos syndrome is an overgrowth syndrome characterized by macrocephaly, advanced bone age, characteristic facial features, and learning disabilities, caused by mutations or deletions of the <jats:italic>NSD1<\/jats:italic> gene, located at 5q35. Sotos syndrome has been described in a number of patients with autism spectrum disorders, suggesting that <jats:italic>NSD1<\/jats:italic> could be involved in other cases of autism and macrocephaly.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>We screened the <jats:italic>NSD1<\/jats:italic> gene for mutations and deletions in 88 patients with autism spectrum disorders and macrocephaly (head circumference 2 standard deviations or more above the mean). Mutation analysis was performed by direct sequencing of all exons and flanking regions. Dosage analysis of <jats:italic>NSD1<\/jats:italic> was carried out using multiplex ligation-dependent probe amplification.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We identified three missense variants (R604L, S822C and E1499G) in one patient each, but none is within a functional domain. In addition, segregation analysis showed that all variants were inherited from healthy parents and in two cases were also present in unaffected siblings, indicating that they are probably nonpathogenic. No partial or whole gene deletions\/duplications were observed.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Our findings suggest that Sotos syndrome is a rare cause of autism spectrum disorders and that screening for <jats:italic>NSD1<\/jats:italic> mutations and deletions in patients with autism and macrocephaly is not warranted in the absence of other features of Sotos syndrome.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-8-68","type":"journal-article","created":{"date-parts":[[2007,11,14]],"date-time":"2007-11-14T19:12:37Z","timestamp":1195067557000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly"],"prefix":"10.1186","volume":"8","author":[{"given":"Joseph D","family":"Buxbaum","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guiqing","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gudrun","family":"Nygren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pauline","family":"Chaste","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Delorme","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juliet","family":"Goldsmith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"R\u00e5stam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy M","family":"Silverman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric","family":"Hollander","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christopher","family":"Gillberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marion","family":"Leboyer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catalina","family":"Betancur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,11,14]]},"reference":[{"issue":"4","key":"262_CR1","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1038\/ng863","volume":"30","author":"N Kurotaki","year":"2002","unstructured":"Kurotaki N, Imaizumi K, Harada N, Masuno M, Kondoh T, Nagai T, Ohashi H, Naritomi K, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Hasegawa T, Chinen Y, Tomita Ha HA, Kinoshita A, Mizuguchi T, Yoshiura Ki K, Ohta T, Kishino T, Fukushima Y, Niikawa N, Matsumoto N: Haploinsufficiency of NSD1 causes Sotos syndrome. Nat Genet. 2002, 30 (4): 365-366. 10.1038\/ng863.","journal-title":"Nat Genet"},{"issue":"12","key":"262_CR2","doi-asserted-by":"publisher","first-page":"3398","DOI":"10.1093\/emboj\/17.12.3398","volume":"17","author":"N Huang","year":"1998","unstructured":"Huang N, vom Baur E, Garnier JM, Lerouge T, Vonesch JL, Lutz Y, Chambon P, Losson R: Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators. Embo J. 1998, 17 (12): 3398-3412. 10.1093\/emboj\/17.12.3398.","journal-title":"Embo J"},{"issue":"5","key":"262_CR3","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1002\/humu.10270","volume":"22","author":"N Kurotaki","year":"2003","unstructured":"Kurotaki N, Harada N, Shimokawa O, Miyake N, Kawame H, Uetake K, Makita Y, Kondoh T, Ogata T, Hasegawa T, Nagai T, Ozaki T, Touyama M, Shenhav R, Ohashi H, Medne L, Shiihara T, Ohtsu S, Kato Z, Okamoto N, Nishimoto J, Lev D, Miyoshi Y, Ishikiriyama S, Sonoda T, Sakazume S, Fukushima Y, Kurosawa K, Cheng JF, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N: Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletion. Hum Mutat. 2003, 22 (5): 378-387. 10.1002\/humu.10270.","journal-title":"Hum Mutat"},{"issue":"2","key":"262_CR4","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1086\/432082","volume":"77","author":"K Tatton-Brown","year":"2005","unstructured":"Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N: Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005, 77 (2): 193-204. 10.1086\/432082.","journal-title":"Am J Hum Genet"},{"issue":"8","key":"262_CR5","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1007\/BF01957694","volume":"149","author":"JD Morrow","year":"1990","unstructured":"Morrow JD, Whitman BY, Accardo PJ: Autistic disorder in Sotos syndrome: a case report. Eur J Pediatr. 1990, 149 (8): 567-569. 10.1007\/BF01957694.","journal-title":"Eur J Pediatr"},{"key":"262_CR6","first-page":"241\u201344","volume":"3","author":"M Zappella","year":"1990","unstructured":"Zappella M: Autistic features in children affected by cerebral gigantism. Brain Dysfunct. 1990, 3: 241\u201344-","journal-title":"Brain Dysfunct"},{"issue":"3","key":"262_CR7","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1097\/00004583-199105000-00024","volume":"30","author":"PV Trad","year":"1991","unstructured":"Trad PV, Schlefer E, Hertzig M, Kernberg PF: Treatment strategies for a case of concurrent pervasive developmental disorder and cerebral gigantism. J Am Acad Child Adolesc Psychiatry. 1991, 30 (3): 499-506. 10.1097\/00004583-199105000-00024.","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"1","key":"262_CR8","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1007\/s007870200007","volume":"11","author":"SE Mouridsen","year":"2002","unstructured":"Mouridsen SE, Hansen MB: Neuropsychiatric aspects of Sotos syndrome. A review and two case illustrations. Eur Child Adolesc Psychiatry. 2002, 11 (1): 43-48. 10.1007\/s007870200007.","journal-title":"Eur Child Adolesc Psychiatry"},{"issue":"3","key":"262_CR9","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1097\/00041444-200409000-00002","volume":"14","author":"PF Bolton","year":"2004","unstructured":"Bolton PF, Veltman MW, Weisblatt E, Holmes JR, Thomas NS, Youings SA, Thompson RJ, Roberts SE, Dennis NR, Browne CE, Goodson S, Moore V, Brown J: Chromosome 15q11-13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatr Genet. 2004, 14 (3): 131-137. 10.1097\/00041444-200409000-00002.","journal-title":"Psychiatr Genet"},{"issue":"1","key":"262_CR10","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1177\/1362361304040638","volume":"8","author":"M Kielinen","year":"2004","unstructured":"Kielinen M, Rantala H, Timonen E, Linna SL, Moilanen I: Associated medical disorders and disabilities in children with autistic disorder: a population-based study. Autism. 2004, 8 (1): 49-60. 10.1177\/1362361304040638.","journal-title":"Autism"},{"issue":"9","key":"262_CR11","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1097\/01.gim.0000237789.98842.f1","volume":"8","author":"GB Schaefer","year":"2006","unstructured":"Schaefer GB, Lutz RE: Diagnostic yield in the clinical genetic evaluation of autism spectrum disorders. Genet Med. 2006, 8 (9): 549-556.","journal-title":"Genet Med"},{"key":"262_CR12","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1002\/(SICI)1096-8628(20000410)91:4<245::AID-AJMG1>3.0.CO;2-2","volume":"91","author":"JH Miles","year":"2000","unstructured":"Miles JH, Hillman RE: Value of a clinical morphology examination in autism. Am J Med Genet. 2000, 91: 245-253. 10.1002\/(SICI)1096-8628(20000410)91:4<245::AID-AJMG1>3.0.CO;2-2.","journal-title":"Am J Med Genet"},{"key":"262_CR13","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1002\/ajmg.c.30076","volume":"142","author":"A Battaglia","year":"2006","unstructured":"Battaglia A, Carey JC: Etiologic yield of autistic spectrum disorders: a prospective study. Am J Med Genet C Semin Med Genet. 2006, 142: 3-7.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"6","key":"262_CR14","doi-asserted-by":"publisher","first-page":"1133","DOI":"10.1176\/appi.ajp.162.6.1133","volume":"162","author":"S Chakrabarti","year":"2005","unstructured":"Chakrabarti S, Fombonne E: Pervasive developmental disorders in preschool children: confirmation of high prevalence. Am J Psychiatry. 2005, 162 (6): 1133-1141. 10.1176\/appi.ajp.162.6.1133.","journal-title":"Am J Psychiatry"},{"key":"262_CR15","doi-asserted-by":"publisher","first-page":"379","DOI":"10.1146\/annurev.genom.5.061903.180050","volume":"5","author":"J Veenstra-Vanderweele","year":"2004","unstructured":"Veenstra-Vanderweele J, Christian SL, Cook EH: Autism as a paradigmatic complex genetic disorder. Annu Rev Genomics Hum Genet. 2004, 5: 379-405. 10.1146\/annurev.genom.5.061903.180050.","journal-title":"Annu Rev Genomics Hum Genet"},{"issue":"4","key":"262_CR16","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.biopsych.2006.06.020","volume":"61","author":"AR Gupta","year":"2007","unstructured":"Gupta AR, State MW: Recent advances in the genetics of autism. Biol Psychiatry. 2007, 61 (4): 429-437. 10.1016\/j.biopsych.2006.06.020.","journal-title":"Biol Psychiatry"},{"key":"262_CR17","volume-title":"The Biology of the Autistic Syndromes","author":"C Gillberg","year":"2000","unstructured":"Gillberg C, Coleman M: The Biology of the Autistic Syndromes. 2000, London, UK , Cambridge University Press"},{"issue":"3","key":"262_CR18","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1038\/ng1985","volume":"39","author":"Autism Genome Project Consortium","year":"2007","unstructured":"Autism Genome Project Consortium: Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat Genet. 2007, 39 (3): 319-328. 10.1038\/ng1985.","journal-title":"Nat Genet"},{"issue":"5823","key":"262_CR19","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1126\/science.1138659","volume":"316","author":"J Sebat","year":"2007","unstructured":"Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J, Leotta A, Pai D, Zhang R, Lee YH, Hicks J, Spence SJ, Lee AT, Puura K, Lehtimaki T, Ledbetter D, Gregersen PK, Bregman J, Sutcliffe JS, Jobanputra V, Chung W, Warburton D, King MC, Skuse D, Geschwind DH, Gilliam TC, Ye K, Wigler M: Strong association of de novo copy number mutations with autism. Science. 2007, 316 (5823): 445-449. 10.1126\/science.1138659.","journal-title":"Science"},{"issue":"2","key":"262_CR20","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1023\/A:1023036509476","volume":"29","author":"E Fombonne","year":"1999","unstructured":"Fombonne E, Roge B, Claverie J, Courty S, Fremolle J: Microcephaly and macrocephaly in autism. J Autism Dev Disord. 1999, 29 (2): 113-119. 10.1023\/A:1023036509476.","journal-title":"J Autism Dev Disord"},{"issue":"4","key":"262_CR21","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1002\/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B","volume":"95","author":"JH Miles","year":"2000","unstructured":"Miles JH, Hadden LL, Takahashi TN, Hillman RE: Head circumference is an independent clinical finding associated with autism. Am J Med Genet. 2000, 95 (4): 339-350. 10.1002\/1096-8628(20001211)95:4<339::AID-AJMG9>3.0.CO;2-B.","journal-title":"Am J Med Genet"},{"issue":"2","key":"262_CR22","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1086\/321292","volume":"69","author":"DH Geschwind","year":"2001","unstructured":"Geschwind DH, Sowinski J, Lord C, Iversen P, Shestack J, Jones P, Ducat L, Spence SJ: The Autism Genetic Resource Exchange: a resource for the study of autism and related neuropsychiatric conditions. Am J Hum Genet. 2001, 69 (2): 463-466. 10.1086\/321292.","journal-title":"Am J Hum Genet"},{"issue":"5","key":"262_CR23","doi-asserted-by":"publisher","first-page":"659","DOI":"10.1007\/BF02172145","volume":"24","author":"C Lord","year":"1994","unstructured":"Lord C, Rutter M, Le Couteur A: Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994, 24 (5): 659-685. 10.1007\/BF02172145.","journal-title":"J Autism Dev Disord"},{"issue":"1","key":"262_CR24","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1177\/1362361301005001006","volume":"5","author":"C Gillberg","year":"2001","unstructured":"Gillberg C, Gillberg C, Rastam M, Wentz E: The Asperger Syndrome (and high-functioning autism) Diagnostic Interview (ASDI): a preliminary study of a new structured clinical interview. Autism. 2001, 5 (1): 57-66. 10.1177\/1362361301005001006.","journal-title":"Autism"},{"issue":"4","key":"262_CR25","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1002\/ajmg.b.30493","volume":"144","author":"JD Buxbaum","year":"2007","unstructured":"Buxbaum JD, Cai G, Chaste P, Nygren G, Goldsmith J, Reichert J, Anckars\u00e4ter H, R\u00e5stam M, Smith CJ, Silverman JM, Hollander E, Leboyer M, Gillberg C, Verloes A, Betancur C: Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Am J Med Genet B Neuropsychiatr Genet. 2007, 144 (4): 484-491.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"issue":"9","key":"262_CR26","doi-asserted-by":"publisher","first-page":"e56","DOI":"10.1136\/jmg.2005.031930","volume":"42","author":"J Douglas","year":"2005","unstructured":"Douglas J, Tatton-Brown K, Coleman K, Guerrero S, Berg J, Cole TR, Fitzpatrick D, Gillerot Y, Hughes HE, Pilz D, Raymond FL, Temple IK, Irrthum A, Schouten JP, Rahman N: Partial NSD1 deletions cause 5% of Sotos syndrome and are readily identifiable by multiplex ligation dependent probe amplification. J Med Genet. 2005, 42 (9): e56-10.1136\/jmg.2005.031930.","journal-title":"J Med Genet"},{"issue":"8","key":"262_CR27","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1097\/01.GIM.0000178503.15559.d3","volume":"7","author":"DJ Waggoner","year":"2005","unstructured":"Waggoner DJ, Raca G, Welch K, Dempsey M, Anderes E, Ostrovnaya I, Alkhateeb A, Kamimura J, Matsumoto N, Schaeffer GB, Martin CL, Das S: NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005, 7 (8): 524-533.","journal-title":"Genet Med"},{"issue":"2","key":"262_CR28","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1016\/S0378-1119(01)00750-8","volume":"279","author":"N Kurotaki","year":"2001","unstructured":"Kurotaki N, Harada N, Yoshiura K, Sugano S, Niikawa N, Matsumoto N: Molecular characterization of NSD1, a human homologue of the mouse Nsd1 gene. Gene. 2001, 279 (2): 197-204. 10.1016\/S0378-1119(01)00750-8.","journal-title":"Gene"},{"issue":"3","key":"262_CR29","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1002\/ajmg.a.30492","volume":"134","author":"M Cecconi","year":"2005","unstructured":"Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F: Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A. 2005, 134 (3): 247-253.","journal-title":"Am J Med Genet A"},{"key":"262_CR30","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1002\/humu.20568","volume":"28","author":"P Saugier-Veber","year":"2007","unstructured":"Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Heron D, David A, Gerard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frebourg T, Burglen L: Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat. 2007, 28: 1098-107. 10.1002\/humu.20568.","journal-title":"Hum Mutat"},{"issue":"1","key":"262_CR31","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1136\/jmg.40.1.51","volume":"40","author":"P Hoglund","year":"2003","unstructured":"Hoglund P, Kurotaki N, Kytola S, Miyake N, Somer M, Matsumoto N: Familial Sotos syndrome is caused by a novel 1 bp deletion of the NSD1 gene. J Med Genet. 2003, 40 (1): 51-54. 10.1136\/jmg.40.1.51.","journal-title":"J Med Genet"},{"issue":"11","key":"262_CR32","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1038\/sj.ejhg.5201050","volume":"11","author":"S Turkmen","year":"2003","unstructured":"Turkmen S, Gillessen-Kaesbach G, Meinecke P, Albrecht B, Neumann LM, Hesse V, Palanduz S, Balg S, Majewski F, Fuchs S, Zschieschang P, Greiwe M, Mennicke K, Kreuz FR, Dehmel HJ, Rodeck B, Kunze J, Tinschert S, Mundlos S, Horn D: Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. Eur J Hum Genet. 2003, 11 (11): 858-865. 10.1038\/sj.ejhg.5201050.","journal-title":"Eur J Hum Genet"},{"issue":"18","key":"262_CR33","first-page":"1499","volume":"118","author":"TM Tong","year":"2005","unstructured":"Tong TM, Hau EW, Lo IF, Chan DH, Lam ST: Spectrum of NSD1 gene mutations in southern Chinese patients with Sotos syndrome. Chin Med J (Engl). 2005, 118 (18): 1499-1506.","journal-title":"Chin Med J (Engl)"},{"issue":"1","key":"262_CR34","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1002\/ajmg.a.30973","volume":"139","author":"MM van Haelst","year":"2005","unstructured":"van Haelst MM, Hoogeboom JJ, Baujat G, Bruggenwirth HT, Van de Laar I, Coleman K, Rahman N, Niermeijer MF, Drop SL, Scambler PJ: Familial gigantism caused by an NSD1 mutation. Am J Med Genet A. 2005, 139 (1): 40-44.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"262_CR35","first-page":"1","volume":"52","author":"S Tei","year":"2006","unstructured":"Tei S, Tsuneishi S, Matsuo M: The first Japanese familial Sotos syndrome with a novel mutation of the NSD1 Gene. Kobe J Med Sci. 2006, 52 (1): 1-8.","journal-title":"Kobe J Med Sci"},{"issue":"2","key":"262_CR36","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1097\/00041444-200106000-00001","volume":"11","author":"TH Wassink","year":"2001","unstructured":"Wassink TH, Piven J, Patil SR: Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatr Genet. 2001, 11 (2): 57-63. 10.1097\/00041444-200106000-00001.","journal-title":"Psychiatr Genet"},{"issue":"1","key":"262_CR37","doi-asserted-by":"publisher","first-page":"52","DOI":"10.1136\/jmg.38.1.52","volume":"38","author":"MA Parisi","year":"2001","unstructured":"Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L: The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet. 2001, 38 (1): 52-58. 10.1136\/jmg.38.1.52.","journal-title":"J Med Genet"},{"issue":"6","key":"262_CR38","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1002\/ajmg.1477","volume":"105","author":"A Goffin","year":"2001","unstructured":"Goffin A, Hoefsloot LH, Bosgoed E, Swillen A, Fryns JP: PTEN mutation in a family with Cowden syndrome and autism. Am J Med Genet. 2001, 105 (6): 521-524. 10.1002\/ajmg.1477.","journal-title":"Am J Med Genet"},{"issue":"4","key":"262_CR39","doi-asserted-by":"publisher","first-page":"318","DOI":"10.1136\/jmg.2004.024646","volume":"42","author":"MG Butler","year":"2005","unstructured":"Butler MG, Dasouki MJ, Zhou XP, Talebizadeh Z, Brown M, Takahashi TN, Miles JH, Wang CH, Stratton R, Pilarski R, Eng C: Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. J Med Genet. 2005, 42 (4): 318-321. 10.1136\/jmg.2004.024646.","journal-title":"J Med Genet"},{"issue":"6","key":"262_CR40","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1002\/ajmg.a.31619","volume":"143","author":"GE Herman","year":"2007","unstructured":"Herman GE, Butter E, Enrile B, Pastore M, Prior TW, Sommer A: Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. Am J Med Genet A. 2007, 143 (6): 589-593.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"262_CR41","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/BF02408551","volume":"14","author":"C Gillberg","year":"1984","unstructured":"Gillberg C, Forsell C: Childhood psychosis and neurofibromatosis--more than a coincidence?. J Autism Dev Disord. 1984, 14 (1): 1-8. 10.1007\/BF02408551.","journal-title":"J Autism Dev Disord"},{"issue":"6","key":"262_CR42","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1023\/A:1026012414193","volume":"28","author":"PG Williams","year":"1998","unstructured":"Williams PG, Hersh JH: Brief report: the association of neurofibromatosis type 1 and autism. J Autism Dev Disord. 1998, 28 (6): 567-571. 10.1023\/A:1026012414193.","journal-title":"J Autism Dev Disord"},{"issue":"2","key":"262_CR43","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1542\/peds.114.2.451","volume":"114","author":"MA Manning","year":"2004","unstructured":"Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns GM, Hoyme HE: Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum. Pediatrics. 2004, 114 (2): 451-457. 10.1542\/peds.114.2.451.","journal-title":"Pediatrics"},{"issue":"1","key":"262_CR44","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1002\/ajmg.1320410128","volume":"41","author":"TR Cole","year":"1991","unstructured":"Cole TR, Hughes HE: Autosomal dominant macrocephaly: benign familial macrocephaly or a new syndrome?. Am J Med Genet. 1991, 41 (1): 115-124. 10.1002\/ajmg.1320410128.","journal-title":"Am J Med Genet"},{"issue":"2","key":"262_CR45","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1002\/1096-8628(20000911)94:2<149::AID-AJMG7>3.0.CO;2-#","volume":"94","author":"S Naqvi","year":"2000","unstructured":"Naqvi S, Cole T, Graham JM: Cole-Hughes macrocephaly syndrome and associated autistic manifestations. Am J Med Genet. 2000, 94 (2): 149-152. 10.1002\/1096-8628(20000911)94:2<149::AID-AJMG7>3.0.CO;2-#.","journal-title":"Am J Med Genet"},{"issue":"10","key":"262_CR46","doi-asserted-by":"publisher","first-page":"849","DOI":"10.1136\/jmg.34.10.849","volume":"34","author":"KH Orstavik","year":"1997","unstructured":"Orstavik KH, Stromme P, Ek J, Torvik A, Skjeldal OH: Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?. J Med Genet. 1997, 34 (10): 849-851.","journal-title":"J Med Genet"},{"issue":"4","key":"262_CR47","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/ajmg.a.20032","volume":"120","author":"CE Steiner","year":"2003","unstructured":"Steiner CE, Guerreiro MM, Marques-de-Faria AP: On macrocephaly, epilepsy, autism, specific facial features, and mental retardation. Am J Med Genet A. 2003, 120 (4): 564-565. 10.1002\/ajmg.a.20032.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"262_CR48","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.biopsych.2005.03.026","volume":"58","author":"E Redcay","year":"2005","unstructured":"Redcay E, Courchesne E: When is the brain enlarged in autism? A meta-analysis of all brain size reports. Biol Psychiatry. 2005, 58 (1): 1-9. 10.1016\/j.biopsych.2005.03.026.","journal-title":"Biol Psychiatry"},{"issue":"2","key":"262_CR49","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1097\/00004583-199702000-00019","volume":"36","author":"JE Lainhart","year":"1997","unstructured":"Lainhart JE, Piven J, Wzorek M, Landa R, Santangelo SL, Coon H, Folstein SE: Macrocephaly in children and adults with autism. J Am Acad Child Adolesc Psychiatry. 1997, 36 (2): 282-290. 10.1097\/00004583-199702000-00019.","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"issue":"Pt 5","key":"262_CR50","doi-asserted-by":"publisher","first-page":"889","DOI":"10.1093\/brain\/121.5.889","volume":"121","author":"A Bailey","year":"1998","unstructured":"Bailey A, Luthert P, Dean A, Harding B, Janota I, Montgomery M, Rutter M, Lantos P: A clinicopathological study of autism. Brain. 1998, 121 (Pt 5): 889-905. 10.1093\/brain\/121.5.889.","journal-title":"Brain"},{"issue":"1","key":"262_CR51","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1086\/345647","volume":"72","author":"J Douglas","year":"2003","unstructured":"Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N: NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes. Am J Hum Genet. 2003, 72 (1): 132-143. 10.1086\/345647.","journal-title":"Am J Hum Genet"},{"issue":"Pt 2","key":"262_CR52","doi-asserted-by":"publisher","first-page":"222","DOI":"10.1046\/j.1469-1809.2004.00150.x","volume":"69","author":"L Melchior","year":"2005","unstructured":"Melchior L, Schwartz M, Duno M: dHPLC screening of the NSD1 gene identifies nine novel mutations--summary of the first 100 Sotos syndrome mutations. Ann Hum Genet. 2005, 69 (Pt 2): 222-226. 10.1046\/j.1469-1809.2004.00150.x.","journal-title":"Ann Hum Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-8-68.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-8-68\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-8-68","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-8-68.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,1]],"date-time":"2021-09-01T08:37:01Z","timestamp":1630485421000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-8-68"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,14]]},"references-count":52,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["262"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-8-68","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11,14]]},"assertion":[{"value":"6 August 2007","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 November 2007","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 November 2007","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"68"}}