Document Detail


Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
MedLine Citation:
PMID:  22617343     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectual disability, speech delay, autism spectrum disorders (ASDs), hypotonia and schizophrenia. We performed a detailed clinical and molecular characterization of 24 patients who underwent clinical microarray analysis and had intragenic deletions of NRXN1. Seventeen of these deletions involved exons of NRXN1, whereas seven deleted intronic sequences only. The patients with exonic deletions manifested developmental delay/intellectual disability (93%), infantile hypotonia (59%) and ASDs (56%). Congenital malformations and dysmorphic features appeared infrequently and inconsistently among this population of patients with NRXN1 deletions. The more C-terminal deletions, including those affecting the β isoform of neurexin 1, manifested increased head size and a high frequency of seizure disorder (88%) when compared with N-terminal deletions of NRXN1.
Authors:
Christian P Schaaf; Philip M Boone; Srirangan Sampath; Charles Williams; Patricia I Bader; Jennifer M Mueller; Oleg A Shchelochkov; Chester W Brown; Heather P Crawford; James A Phalen; Nicole R Tartaglia; Patricia Evans; William M Campbell; Anne Chun-Hui Tsai; Lea Parsley; Stephanie W Grayson; Angela Scheuerle; Carol D Luzzi; Sandra K Thomas; Patricia A Eng; Sung-Hae L Kang; Ankita Patel; Pawel Stankiewicz; Sau W Cheung
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-05-23
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  20     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-15     Completed Date:  2013-04-29     Revised Date:  2013-12-06    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1240-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics
Adolescent
Adult
Cell Adhesion Molecules, Neuronal / genetics*
Child
Child Development Disorders, Pervasive / diagnosis,  genetics
DNA Copy Number Variations
Exons / genetics*
Female
Gene Deletion*
Genotype*
Humans
Infant
Intellectual Disability / diagnosis*,  genetics*
Introns
Male
Microarray Analysis
Muscle Hypotonia / congenital,  diagnosis,  genetics
Nerve Tissue Proteins / genetics*
Phenotype*
Protein Isoforms / genetics
Chemical
Reg. No./Substance:
0/Cell Adhesion Molecules, Neuronal; 0/NRXN1 protein, human; 0/Nerve Tissue Proteins; 0/Protein Isoforms
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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