دورية أكاديمية
أعرض في EDS

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

التفاصيل البيبلوغرافية
العنوان: Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.
المؤلفون: Schaaf CP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW
المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Dec; Vol. 20 (12), pp. 1240-7. Date of Electronic Publication: 2012 May 23.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003->: London : Nature Publishing Group
Original Publication: Basel ; New York : Karger, [1992-
مواضيع طبية MeSH: Gene Deletion* , Genotype* , Phenotype*, Cell Adhesion Molecules, Neuronal/*genetics , Exons/*genetics , Intellectual Disability/*diagnosis , Intellectual Disability/*genetics , Nerve Tissue Proteins/*genetics, Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Calcium-Binding Proteins ; Child ; Child Development Disorders, Pervasive/diagnosis ; Child Development Disorders, Pervasive/genetics ; DNA Copy Number Variations ; Female ; Humans ; Infant ; Introns ; Male ; Microarray Analysis ; Muscle Hypotonia/congenital ; Muscle Hypotonia/diagnosis ; Muscle Hypotonia/genetics ; Neural Cell Adhesion Molecules ; Protein Isoforms/genetics
مستخلص: 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.
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المشرفين على المادة: 0 (Calcium-Binding Proteins)
0 (Cell Adhesion Molecules, Neuronal)
0 (NRXN1 protein, human)
0 (Nerve Tissue Proteins)
0 (Neural Cell Adhesion Molecules)
0 (Protein Isoforms)
تواريخ الأحداث: Date Created: 20120524 Date Completed: 20130429 Latest Revision: 20211021
رمز التحديث: 20231215
مُعرف محوري في PubMed: PMC3499754
DOI: 10.1038/ejhg.2012.95
PMID: 22617343
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-5438
DOI:10.1038/ejhg.2012.95