Warning: Undefined variable $zfal in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Deprecated: str_replace(): Passing null to parameter #3 ($subject) of type array|string is deprecated in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 525
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 530
 free
Warning: Undefined variable $sterm in C:\Inetpub\vhosts\kidney.de\httpdocs\mlpefetch.php on line 531
 free
 free
 
English Wikipedia
Nephropedia Template TP (
Twit Text
DeepDyve
Pubget Overpricing |  
lüll
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders Ching MS; Shen Y; Tan WH; Jeste SS; Morrow EM; Chen X; Mukaddes NM; Yoo SY; Hanson E; Hundley R; Austin C; Becker RE; Berry GT; Driscoll K; Engle EC; Friedman S; Gusella JF; Hisama FM; Irons MB; Lafiosca T; LeClair E; Miller DT; Neessen M; Picker JD; Rappaport L; Rooney CM; Sarco DP; Stoler JM; Walsh CA; Wolff RR; Zhang T; Nasir RH; Wu BLAm J Med Genet B Neuropsychiatr Genet 2010[Jun]; 153B (4): 937-47Research 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.|Autistic Disorder/genetics[MESH]|Child[MESH]|Child Development Disorders, Pervasive/genetics[MESH]|Comparative Genomic Hybridization[MESH]|Developmental Disabilities/*genetics[MESH]|Female[MESH]|Humans[MESH]|Intellectual Disability/genetics[MESH]|Language Development Disorders/genetics[MESH]|Male[MESH]|Mutation[MESH]|Phenotype[MESH]|Schizophrenia/genetics[MESH]|Sequence Deletion[MESH] |
