title: Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
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.
authors.affiliation: Division of Developmental Medicine, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
authors.forename: Michael S L
authors.initials: MS
authors.lastname: Ching
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
authors.forename: Wen-Hann
authors.initials: WH
authors.lastname: Tan
authors.forename: Shafali S
authors.initials: SS
authors.lastname: Jeste
authors.forename: Eric M
authors.initials: EM
authors.lastname: Morrow
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Chen
authors.forename: Nahit M
authors.initials: NM
authors.lastname: Mukaddes
authors.forename: Seung-Yun
authors.initials: SY
authors.lastname: Yoo
authors.forename: Ellen
authors.initials: E
authors.lastname: Hanson
authors.forename: Rachel
authors.initials: R
authors.lastname: Hundley
authors.forename: Christina
authors.initials: C
authors.lastname: Austin
authors.forename: Ronald E
authors.initials: RE
authors.lastname: Becker
authors.forename: Gerard T
authors.initials: GT
authors.lastname: Berry
authors.forename: Katherine
authors.initials: K
authors.lastname: Driscoll
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
authors.forename: Sandra
authors.initials: S
authors.lastname: Friedman
authors.forename: James F
authors.initials: JF
authors.lastname: Gusella
authors.forename: Fuki M
authors.initials: FM
authors.lastname: Hisama
authors.forename: Mira B
authors.initials: MB
authors.lastname: Irons
authors.forename: Tina
authors.initials: T
authors.lastname: Lafiosca
authors.forename: Elaine
authors.initials: E
authors.lastname: LeClair
authors.forename: David T
authors.initials: DT
authors.lastname: Miller
authors.forename: Michael
authors.initials: M
authors.lastname: Neessen
authors.forename: Jonathan D
authors.initials: JD
authors.lastname: Picker
authors.forename: Leonard
authors.initials: L
authors.lastname: Rappaport
authors.forename: Cynthia M
authors.initials: CM
authors.lastname: Rooney
authors.forename: Dean P
authors.initials: DP
authors.lastname: Sarco
authors.forename: Joan M
authors.initials: JM
authors.lastname: Stoler
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Robert R
authors.initials: RR
authors.lastname: Wolff
authors.forename: Ting
authors.initials: T
authors.lastname: Zhang
authors.forename: Ramzi H
authors.initials: RH
authors.lastname: Nasir
authors.forename: Bai-Lin
authors.initials: BL
authors.lastname: Wu
mesh_terms: D001321:Autistic Disorder / Q000235:genetics; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000235:genetics; D055028:Comparative Genomic Hybridization; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D009154:Mutation; D010641:Phenotype; D012559:Schizophrenia / Q000235:genetics; D017384:Sequence Deletion
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