Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
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DOI：
10.1002/ajmg.b.31063
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发表时间：
2010-06-05
影响因子：
2.8
通讯作者：
Wu, Bai-Lin
中科院分区：
文献类型：
--
作者：
Ching, Michael S. L.;Shen, Yiping;Tan, Wen-Hann;Jeste, Shafali S.;Morrow, Eric M.;Chen, Xiaoli;Mukaddes, Nahit M.;Yoo, Seung-Yun;Hanson, Ellen;Hundley, Rachel;Austin, Christina;Becker, Ronald E.;Berry, Gerard T.;Driscoll, Katherine;Engle, Elizabeth C.;Friedman, Sandra;Gusella, James F.;Hisama, Fuki M.;Irons, Mira B.;Lafiosca, Tina;LeClair, Elaine;Miller, David T.;Neessen, Michael;Picker, Jonathan D.;Rappaport, Leonard;Rooney, Cynthia M.;Sarco, Dean P.;Stoler, Joan M.;Walsh, Christopher A.;Wolff, Robert R.;Zhang, Ting;Nasir, Ramzi H.;Wu, Bai-Lin
研究表明，neurexin-1（NRXN 1）基因的突变与多种疾病有关，包括自闭症、精神分裂症和尼古丁依赖。据我们所知，还没有发表的报告描述与NRXN 1突变相关的表型的广度。我们对涉及NRXN 1外显子序列缺失的受试者的病历进行了审查。我们从2007年3月至2009年1月期间临床转诊进行比较基因组杂交检测的3,540例患者中确定了病例。12名受试者被鉴定为外显子缺失。NRXN 1缺失个体的表型是可变的，包括自闭症谱系障碍、精神发育迟滞、语言迟缓和张力减退。与文献中描述的对照人群相比，我们的临床样本中NRXN 1缺失的统计学显著增加（P = 8.9 × 10−7）。通过自闭症纯合性作图协作组确定了另外三名NRXN 1缺失和自闭症受试者，这种缺失与表型分离。我们的研究表明，NRXN 1的缺失易患广泛的发育障碍。© 2010 Wiley-Liss公司。
Research has implicated mutations in the gene for neurexin-1 (NRXN1) in a variety of conditions including autism, schizophrenia, and nicotine dependence. To our knowledge, there have been no published reports describing the breadth of the phenotype associated with mutations in NRXN1. We present a medical record review of subjects with deletions involving exonic sequences of NRXN1. We ascertained cases from 3,540 individuals referred clinically for comparative genomic hybridization testing from March 2007 to January 2009. Twelve subjects were identified with exonic deletions. The phenotype of individuals with NRXN1 deletion is variable and includes autism spectrum disorders, mental retardation, language delays, and hypotonia. There was a statistically significant increase in NRXN1 deletion in our clinical sample compared to control populations described in the literature (P = 8.9 × 10−7). Three additional subjects with NRXN1 deletions and autism were identified through the Homozygosity Mapping Collaborative for Autism, and this deletion segregated with the phenotype. Our study indicates that deletions of NRXN1 predispose to a wide spectrum of developmental disorders. © 2010 Wiley-Liss, Inc.
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