{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T01:14:43Z","timestamp":1792026883527,"version":"4.4.0"},"reference-count":38,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T00:00:00Z","timestamp":1317340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2011,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The central portion of the short arm of chromosome 5 is unusual in that large, cytogenetically visible interstitial deletions segregate in families with and without phenotypic consequences. Here we present a family in which a transmitted interstitial deletion of 5p13.3 to 5p14.3 co\u2010segregated with learning and\/or behavioral difficulties in six family members. Facial dysmorphism was not striking but a father and daughter both had lacrimal fistulae. The deletion was 12.23\u2009Mb in size (chr5:20,352,535\u201332,825,775) and contained fifteen known protein coding genes. Five of these (<jats:italic>GOLPH3<\/jats:italic>; <jats:italic>MTMR12<\/jats:italic>; <jats:italic>ZFR<\/jats:italic>; <jats:italic>SUB1<\/jats:italic>; and <jats:italic>NPR3<\/jats:italic>) and an ultra\u2010conserved microRNA (hsa\u2010miR\u2010579) were present in an 883\u2009kb candidate gene region in 5p13.3 that was deleted in the present family but not in previously reported overlapping benign deletions. Members of the cadherin precursor gene cluster, with brain specific expression, were deleted in both affected and benign deletion families. The candidate genes in 5p13.3 may be sufficient to account for the consistent presence or absence of phenotype in medial 5p deletions. However, we consider the possibility of position effects in which <jats:italic>CDH6<\/jats:italic>, and\/or other cadherin genes, become penetrant when adjacent genes, or modifiers of gene expression, are also deleted. This could account for the absence of intellectual disability in benign deletions of the cadherin cluster, the cognitive phenotype in medial 5p deletion syndrome and the greater severity of intellectual disability in patients with cri\u2010du\u2010chat syndrome and deletions of 5p15 that extend into the region deleted in the present family. \u00a9 2011 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34241","type":"journal-article","created":{"date-parts":[[2011,9,30]],"date-time":"2011-09-30T20:51:54Z","timestamp":1317415914000},"page":"2807-2815","source":"Crossref","is-referenced-by-count":8,"title":["Transmitted deletions of medial 5p and learning difficulties; Does the cadherin cluster only become penetrant when flanking genes are deleted?"],"prefix":"10.1002","volume":"155","author":[{"given":"John C.K.","family":"Barber","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuwen","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark S.","family":"Bateman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amanda L.","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,9,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bies.200900066"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02868.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026955"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201932"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32387"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098119"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.020"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01113.x"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.011"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-33"},{"key":"e_1_2_9_12_1","first-page":"1162","article-title":"Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features","volume":"56","author":"Church DM","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_13_1","first-page":"567","article-title":"A neuropsychological\u2010genetic profile of atypical cri du chat syndrome: Implications for prognosis","volume":"36","author":"Cornish KM","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31960"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.00995.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500398102"},{"key":"e_1_2_9_17_1","first-page":"1404","article-title":"Evidence for a distinct region causing a cat\u2010like cry in patients with 5p deletions","volume":"56","author":"Gersh M","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03120"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkj112"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(200002)20:2<144::AID-PD770>3.0.CO;2-9"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001154"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.2.125"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440317"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/510919"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M109.033407"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01091.x"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2009.172"},{"key":"e_1_2_9_28_1","first-page":"A119","article-title":"Cytogenetic, molecular and clinical evaluation of an unbalanced familial 5p15.3 abnormality transmitted through four\u2010generations","volume":"97","author":"Luthardt FW","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0205-2"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-3-54"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1993.tb04467.x"},{"key":"e_1_2_9_32_1","first-page":"1","article-title":"Molecular analysis of an unbalanced deletion of the short arm of chromosome 5 that produces no phenotype","volume":"39","author":"Overhauser J","year":"1986","journal-title":"Am J Hum Genet"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.079426"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20815"},{"key":"e_1_2_9_35_1","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1042\/bj3490159","article-title":"Identification of three human type\u2010II classic cadherins and frequent heterophilic interactions between different subclasses of type\u2010II classic cadherins","volume":"349","author":"Shimoyama Y","year":"2000","journal-title":"Biochem J"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.6.465"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature07999"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-7-100"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1086\/427762"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.34241","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34241","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:13:57Z","timestamp":1697613237000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34241"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,30]]},"references-count":38,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2011,11]]}},"alternative-id":["10.1002\/ajmg.a.34241"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34241","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,30]]}}}