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Factors Behind the Effectiveness of an Unsupervised Neural Machine Translation System between Korean and Japanese
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In: Applied Sciences ; Volume 11 ; Issue 16 (2021)
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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
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Ching, Michael SL; 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; Children's Hospital Boston Genotype Phenotype Study Group
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In: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics, vol 153B, iss 4 (2010)
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Abstract:
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 x 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.
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Keyword:
array CGH; Autistic Disorder; Child; Child Development Disorders; Children's Hospital Boston Genotype Phenotype Study Group; Clinical Sciences; CNV; Comparative Genomic Hybridization; Developmental Disabilities; developmental disorders; Female; Genetics; Humans; Intellectual Disability; Language Development Disorders; Male; Mutation; Neurosciences; NRXN1; NRXN1 exonic deletions; Pervasive; Phenotype; Schizophrenia; Sequence Deletion
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URL: https://escholarship.org/uc/item/6zj2639n
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