Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
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ABSTRACT:
SUBMITTER: Schaaf CP
PROVIDER: S-EPMC3499754 | biostudies-literature | 2012 Dec
REPOSITORIES: biostudies-literature
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Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
Schaaf Christian P CP Boone Philip M PM Sampath Srirangan S Williams Charles C Bader Patricia I PI Mueller Jennifer M JM Shchelochkov Oleg A OA Brown Chester W CW Crawford Heather P HP Phalen James A JA Tartaglia Nicole R NR Evans Patricia P Campbell William M WM Tsai Anne Chun-Hui AC Parsley Lea L Grayson Stephanie W SW Scheuerle Angela A Luzzi Carol D CD Thomas Sandra K SK Eng Patricia A PA Kang Sung-Hae L SH Patel Ankita A Stankiewicz Pawel P Cheung Sau W SW
European journal of human genetics : EJHG 20120523 12
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, ...[more]
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