دورية أكاديمية
أعرض في EDS

A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.

التفاصيل البيبلوغرافية
العنوان: A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.
المؤلفون: Arslan Satılmış SB; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey., Kurt EE; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.; Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey., Akçay EP; Department of Medical Biology, Kocaeli University, Kocaeli, Turkey., Sazci A; Department of Medical Biology, Kocaeli University, Kocaeli, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.; Department of Medical Genetics, Ankara Yıldırım Beyazit University, Ankara, Turkey.
المصدر: The journal of gene medicine [J Gene Med] 2021 Feb; Vol. 23 (2), pp. e3307. Date of Electronic Publication: 2021 Jan 07.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: England NLM ID: 9815764 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-2254 (Electronic) Linking ISSN: 1099498X NLM ISO Abbreviation: J Gene Med Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Chichester, UK : John Wiley & Sons,
مواضيع طبية MeSH: Genetic Association Studies*, Genetic Diseases, X-Linked/*genetics , Intellectual Disability/*genetics , Ubiquitin-Conjugating Enzymes/*genetics, Abnormalities, Multiple/genetics ; Adult ; Exome ; Genetic Diseases, X-Linked/diagnosis ; Genetic Predisposition to Disease ; Humans ; Male ; Microarray Analysis ; Middle Aged ; Molecular Diagnostic Techniques/methods ; Mutation, Missense ; Pedigree ; Exome Sequencing ; Young Adult
مستخلص: Background: X-linked intellectual disability type Nascimento (XIDTN) is a disorder of the ubiquitin-proteasome pathway of protein degradation controlled by the UBE2A gene. The disease is characterized by intellectual disability, speech impairment, dysmorphic facial features, skin and nail anomalies, and, frequently, seizures. Eight affected males from a four-generation family who have intellectual disability and speech disorders were examined within an extended family of 57 individuals. Methods A number of methods were used for the molecular diagnosis. Conventional karyotype analyses, array-based comparative genomic hybridization (aCGH), whole exome swquencing (WES), sanger sequencing were performed. Results First, the conventional karyotype analyses were normal, and the results of the aCGH analyses were normal. Then, WES revealed a novel missense mutation of the UBE2A gene at exon 4 NM_003336.3: c.182A>G (p.Glu61Gly). Seven affected individuals and nine carriers in the multigenerational, large family were diagnosed through Sanger sequencing.
Conclusions: We identified the mutation causing intellectual disability in the large family and demonstrated its phenotypic effects. Our cases showed that dysmorphic features could be considered mild, whereas intellectual disability and speech disorders are common features in XIDTN. The structure and function of the gene will be better understood in the novel UBE2A mutation. The genotype-phenotype correlation and phenotypic variations in XIDTN were identified through a literature review. Accordingly, XIDTN should be considered in individuals who exhibit an X-linked pedigree pattern and have intellectual disability and speech disorders.
(© 2020 John Wiley & Sons, Ltd.)
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فهرسة مساهمة: Keywords: UBE2A; X-linked intellectual disability; array comparative genomic hybridization; novel mutation; whole-exome sequencing
المشرفين على المادة: EC 2.3.2.23 (UBE2A protein, human)
EC 2.3.2.23 (Ubiquitin-Conjugating Enzymes)
تواريخ الأحداث: Date Created: 20201228 Date Completed: 20220110 Latest Revision: 20221207
رمز التحديث: 20240628
DOI: 10.1002/jgm.3307
PMID: 33368912
قاعدة البيانات: MEDLINE
الوصف
تدمد:1521-2254
DOI:10.1002/jgm.3307