Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability

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• 作者：Asem M. Alkhateeb ; Samah K. Aburahma ; Wesal Habbab…
• 刊名：Metabolic Brain Disease
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：31
• 期：4
• 页码：901-907
• 全文大小：771 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Neurosciences
  Neurology
  Biochemistry
  Oncology
  
• 出版者：Springer Netherlands
• ISSN：1573-7365
• 卷排序：31

文摘

Intellectual disability is a heterogeneous disease with many genes and mutations influencing the phenotype. Consanguineous families constitute a rich resource for the identification of rare variants causing autosomal recessive disease, due to the effects of inbreeding. Here, we examine three consanguineous Arab families, recruited in a quest to identify novel genes/mutations. All the families had multiple offspring with non-specific intellectual disability. We identified homozygosity (autozygosity) intervals in those families through SNP genotyping and whole exome sequencing, with variants filtered using Ingenuity Variant Analysis (IVA) software. The families showed heterogeneity and novel mutations in three different genes known to be associated with intellectual disability. These mutations were not found in 514 ethnically matched control chromosomes. p.G410C in WWOX, p.H530Y in RARS2, and p.I69F in C10orf2 are novel changes that affect protein function and could give new insights into the development and function of the central nervous system.KeywordsIntellectual disabilityExomeWWOXRARS2C10orf2