{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T02:16:54Z","timestamp":1785377814796,"version":"3.55.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T00:00:00Z","timestamp":1471564800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004963","name":"Seventh Framework Programme","doi-asserted-by":"publisher","award":["PITN-GA-2009\u2013238242"],"award-info":[{"award-number":["PITN-GA-2009\u2013238242"]}],"id":[{"id":"10.13039\/501100004963","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1007\/s00439-016-1721-3","type":"journal-article","created":{"date-parts":[[2016,8,19]],"date-time":"2016-08-19T10:22:53Z","timestamp":1471602173000},"page":"1343-1354","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":64,"title":["Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype"],"prefix":"10.1007","volume":"135","author":[{"given":"Mario","family":"Lucariello","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrique","family":"Vidal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Vidal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mauricio","family":"Saez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Roa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dori","family":"Huertas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merc\u00e8","family":"Pineda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esther","family":"Dalf\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaquin","family":"Dopazo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Jurado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Armstrong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manel","family":"Esteller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,8,19]]},"reference":[{"key":"1721_CR1","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.ajhg.2008.05.015","volume":"83","author":"F Ariani","year":"2008","unstructured":"Ariani F et al (2008) FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet 83:89\u201393","journal-title":"Am J Hum Genet"},{"key":"1721_CR2","doi-asserted-by":"crossref","first-page":"e25","DOI":"10.1111\/epi.12554","volume":"55","author":"AL Baasch","year":"2014","unstructured":"Baasch AL et al (2014) Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities. Epilepsia 55:e25\u2013e29","journal-title":"Epilepsia"},{"key":"1721_CR3","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1093\/genetics\/77.1.71","volume":"77","author":"S Brenner","year":"1974","unstructured":"Brenner S (1974) The genetics of Caenorhabditis elegans. Genetics 77:71\u201394","journal-title":"Genetics"},{"key":"1721_CR4","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1111\/epi.12652","volume":"55","author":"A Brunklaus","year":"2014","unstructured":"Brunklaus A, Zuberi SM (2014) Dravet syndrome\u2013from epileptic encephalopathy to channelopathy. Epilepsia 55:979\u2013984","journal-title":"Epilepsia"},{"key":"1721_CR5","doi-asserted-by":"crossref","first-page":"808","DOI":"10.1016\/j.ajhg.2015.02.016","volume":"96","author":"GL Carvill","year":"2015","unstructured":"Carvill GL et al (2015) Mutations in the GABA transporter SLC6A1 cause epilepsy with myoclonic-atonic seizures. Am J Hum Genet 96:808\u2013815","journal-title":"Am J Hum Genet"},{"key":"1721_CR6","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.neuron.2007.10.001","volume":"56","author":"M Chahrour","year":"2007","unstructured":"Chahrour M, Zoghbi HY (2007) The story of Rett syndrome: from clinic to neurobiology. Neuron 56:422\u2013437","journal-title":"Neuron"},{"key":"1721_CR7","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1093\/hmg\/11.8.945","volume":"11","author":"EY Chan","year":"2002","unstructured":"Chan EY et al (2002) Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior. Hum Mol Genet 11:945\u2013959","journal-title":"Hum Mol Genet"},{"key":"1721_CR8","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1002\/humu.10194","volume":"21","author":"J Christodoulou","year":"2003","unstructured":"Christodoulou J, Grimm A, Maher T, Bennetts B (2003) RettBASE: the IRSA MECP2 Variation Database\u2014a new mutation database in evolution. Hum Mutat 21:466\u2013472","journal-title":"Hum Mutat"},{"key":"1721_CR9","doi-asserted-by":"crossref","first-page":"3984","DOI":"10.1093\/hmg\/dds221","volume":"21","author":"MP DeAndrade","year":"2012","unstructured":"DeAndrade MP et al (2012) Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice. Hum Mol Genet 21:3984\u20133992","journal-title":"Hum Mol Genet"},{"key":"1721_CR10","doi-asserted-by":"crossref","first-page":"7104","DOI":"10.1523\/JNEUROSCI.0378-08.2008","volume":"28","author":"JS Dittman","year":"2008","unstructured":"Dittman JS, Kaplan JM (2008) Behavioral impact of neurotransmitter-activated G-protein-coupled receptors: muscarinic and GABAB receptors regulate Caenorhabditis elegans locomotion. J Neurosci 28:7104\u20137112","journal-title":"J Neurosci"},{"key":"1721_CR11","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1038\/ng1933","volume":"39","author":"CM Durand","year":"2007","unstructured":"Durand CM et al (2007) Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25\u201327","journal-title":"Nat Genet"},{"key":"1721_CR12","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1038\/ng.677","volume":"42","author":"S Endele","year":"2010","unstructured":"Endele S et al (2010) Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet 42:1021\u20131026","journal-title":"Nat Genet"},{"key":"1721_CR13","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/nature09797","volume":"471","author":"CD Fowler","year":"2011","unstructured":"Fowler CD, Lu Q, Johnson PM, Marks MJ, Kenny PJ (2011) Habenular \u03b15 nicotinic receptor subunit signalling controls nicotine intake. Nature 471:597\u2013601","journal-title":"Nature"},{"key":"1721_CR14","doi-asserted-by":"crossref","first-page":"e56599","DOI":"10.1371\/journal.pone.0056599","volume":"8","author":"E Grillo","year":"2013","unstructured":"Grillo E et al (2013) Revealing the complexity of a monogenic disease: Rett syndrome exome sequencing. PLoS One 8:e56599","journal-title":"PLoS One"},{"key":"1721_CR15","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1002\/ajmg.a.36775","volume":"167","author":"M Hara","year":"2015","unstructured":"Hara M, Ohba C, Yamashita Y, Saitsu H, Matsumoto N, Matsuishi T (2015) De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient. Am J Med Genet A 167:1593\u20131596","journal-title":"Am J Med Genet A"},{"key":"1721_CR16","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1126\/science.1079694","volume":"299","author":"L He","year":"2003","unstructured":"He L et al (2003) Spongiform degeneration in mahoganoid mutant mice. Science 299:710\u2013712","journal-title":"Science"},{"key":"1721_CR17","doi-asserted-by":"crossref","first-page":"1401","DOI":"10.1086\/375538","volume":"72","author":"VM Kalscheuer","year":"2003","unstructured":"Kalscheuer VM et al (2003) Disruption of the serine\/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:1401\u20131411","journal-title":"Am J Hum Genet"},{"key":"1721_CR18","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1136\/jmg.2008.062992","volume":"46","author":"D Kemlink","year":"2009","unstructured":"Kemlink D et al (2009) Replication of restless legs syndrome loci in three European populations. J Med Genet 46:315\u2013318","journal-title":"J Med Genet"},{"key":"1721_CR19","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1002\/hep.20285","volume":"40","author":"LW Klomp","year":"2004","unstructured":"Klomp LW et al (2004) Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 40:27\u201338","journal-title":"Hepatology"},{"key":"1721_CR20","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1002\/ana.24073","volume":"75","author":"JR Lemke","year":"2014","unstructured":"Lemke JR et al (2014) GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. Ann Neurol 75:147\u2013154","journal-title":"Ann Neurol"},{"key":"1721_CR21","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/0092-8674(92)90610-O","volume":"69","author":"JD Lewis","year":"1992","unstructured":"Lewis JD, Meehan RR, Henzel WJ, Maurer-Fogy I, Jeppesen P, Klein F, Bird A (1992) Purification, sequence, and cellular localization of a novel chromosomal protein that binds to methylated DNA. Cell 69:905\u2013914","journal-title":"Cell"},{"key":"1721_CR22","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1136\/jmedgenet-2015-103568","volume":"53","author":"F Lopes","year":"2016","unstructured":"Lopes F et al (2016) Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet 53:190\u2013199","journal-title":"J Med Genet"},{"key":"1721_CR23","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1002\/ajmg.a.35419","volume":"158A","author":"G Marangi","year":"2012","unstructured":"Marangi G et al (2012) Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. Am J Med Genet A 158A:1604\u20131611","journal-title":"Am J Med Genet A"},{"key":"1721_CR24","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1097\/00001756-200502280-00021","volume":"16","author":"C Mombereau","year":"2005","unstructured":"Mombereau C, Kaupmann K, Gassmann M, Bettler B, van der Putten H, Cryan JF (2005) Altered anxiety and depression-related behaviour in mice lacking GABAB(2) receptor subunits. NeuroReport 16:307\u2013310","journal-title":"NeuroReport"},{"key":"1721_CR25","doi-asserted-by":"crossref","first-page":"S251","DOI":"10.1016\/S0387-7604(01)00374-6","volume":"23","author":"E Monr\u00f3s","year":"2001","unstructured":"Monr\u00f3s E, Armstrong J, Aibar E, Poo P, Can\u00f3s I, Pineda M (2001) Rett syndrome in Spain: mutation analysis and clinical correlations. Brain Dev 23:S251\u2013S253","journal-title":"Brain Dev"},{"key":"1721_CR26","doi-asserted-by":"crossref","first-page":"640","DOI":"10.1038\/ng.2952","volume":"46","author":"C Nava","year":"2014","unstructured":"Nava C et al (2014) De novo mutations in HCN1 cause early infantile epileptic encephalopathy. Nat Genet 46:640\u2013645","journal-title":"Nat Genet"},{"key":"1721_CR27","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","volume":"68","author":"JL Neul","year":"2010","unstructured":"Neul JL et al (2010) Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol 68:944\u2013950","journal-title":"Ann Neurol"},{"key":"1721_CR28","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1111\/cge.12492","volume":"88","author":"N Okamoto","year":"2015","unstructured":"Okamoto N et al (2015) Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders. Clin Genet 88:288\u2013292","journal-title":"Clin Genet"},{"key":"1721_CR29","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1002\/ajmg.a.37132","volume":"167A","author":"HE Olson","year":"2015","unstructured":"Olson HE et al (2015) Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. Am J Med Genet A 167A:2017\u20132025","journal-title":"Am J Med Genet A"},{"key":"1721_CR30","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1177\/0883073807309786","volume":"23","author":"AK Percy","year":"2008","unstructured":"Percy AK (2008) Rett syndrome: recent research progress. J Child Neurol 23:543\u2013549","journal-title":"J Child Neurol"},{"key":"1721_CR31","first-page":"723","volume":"116","author":"A Rett","year":"1966","unstructured":"Rett A (1966) On an unusual brain atrophy syndrome in hyperammonemia in childhood. Wien Med Wochenschr 116:723\u2013772","journal-title":"Wien Med Wochenschr"},{"key":"1721_CR32","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.74","author":"LH Rodan","year":"2016","unstructured":"Rodan LH et al (2016) A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. doi: 10.1038\/ejhg.2016.74","journal-title":"Eur J Hum Genet"},{"key":"1721_CR33","doi-asserted-by":"crossref","first-page":"786","DOI":"10.1016\/j.nbd.2011.11.002","volume":"45","author":"JC Roux","year":"2012","unstructured":"Roux JC, Zala D, Panayotis N, Borges-Correia A, Saudou F, Villard L (2012) Modification of Mecp2 dosage alters axonal transport through the Huntingtin\/Hap1 pathway. Neurobiol Dis 45:786\u2013795","journal-title":"Neurobiol Dis"},{"key":"1721_CR34","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1038\/gim.2015.100","volume":"18","author":"MA S\u00e1ez","year":"2016","unstructured":"S\u00e1ez MA et al (2016) Mutations in JMJD1C are involved in Rett syndrome and intellectual disability. Genet Med 18:378\u2013385","journal-title":"Genet Med"},{"key":"1721_CR35","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0896-6273(00)81199-X","volume":"26","author":"ER Sawin","year":"2000","unstructured":"Sawin ER, Ranganathan R, Horvitz HR (2000) C. elegans locomotory rate is modulated by the environment through a dopaminergic pathway and by experience through a serotonergic pathway. Neuron 26:619\u2013631","journal-title":"Neuron"},{"key":"1721_CR36","doi-asserted-by":"crossref","first-page":"e21","DOI":"10.1038\/emm.2013.32","volume":"45","author":"JD Sweatt","year":"2013","unstructured":"Sweatt JD (2013) Pitt-Hopkins syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. Exp Mol Med 45:e21","journal-title":"Exp Mol Med"},{"key":"1721_CR37","doi-asserted-by":"crossref","first-page":"7049","DOI":"10.1523\/JNEUROSCI.0073-10.2010","volume":"30","author":"H Tawarayama","year":"2010","unstructured":"Tawarayama H, Yoshida Y, Suto F, Mitchell KJ, Fujisawa H (2010) Roles of semaphorin-6B and plexin-A2 in lamina-restricted projection of hippocampal mossy fibers. J Neurosci 30:7049\u20137060","journal-title":"J Neurosci"},{"key":"1721_CR38","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.1038\/ng.712","volume":"42","author":"LE Vissers","year":"2010","unstructured":"Vissers LE et al (2010) A de novo paradigm for mental retardation. Nat Genet 42:1109\u20131112","journal-title":"Nat Genet"},{"key":"1721_CR39","doi-asserted-by":"crossref","first-page":"e1005175","DOI":"10.1371\/journal.pgen.1005175","volume":"11","author":"J Xiang","year":"2015","unstructured":"Xiang J, Yan S, Li SH, Li XJ (2015) Postnatal loss of hap1 reduces hippocampal neurogenesis and causes adult depressive-like behavior in mice. PLoS Genet 11:e1005175","journal-title":"PLoS Genet"},{"key":"1721_CR40","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1038\/gim.2014.191","volume":"17","author":"X Zhu","year":"2015","unstructured":"Zhu X et al (2015) Whole-exome sequencing in undiagnosed genetic disorders: interpreting 119 trios. Genet Med 17:774\u2013781","journal-title":"Genet Med"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-016-1721-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00439-016-1721-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-016-1721-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,6]],"date-time":"2022-07-06T18:53:44Z","timestamp":1657133624000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00439-016-1721-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,19]]},"references-count":40,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["1721"],"URL":"https:\/\/doi.org\/10.1007\/s00439-016-1721-3","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,19]]}}}