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Metab Brain Dis. 2016 Aug;31(4):901-7. doi: 10.1007/s11011-016-9827-9. Epub 2016 Apr 28.

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

Author information

  • 1Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, P.O. Box 5825, Qatar. asemalkhateeb@just.edu.jo.
  • 2Biotechnology and Genetics Department, Jordan University of Science and Technology, P.O. Box 3030, Irbid, 22110, Jordan. asemalkhateeb@just.edu.jo.
  • 3Neurosciences Department, Jordan University of Science and Technology, P.O. Box 3030, Irbid, 22110, Jordan.
  • 4Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, P.O. Box 5825, Qatar.

Abstract

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.

KEYWORDS:

C10orf2; Exome; Intellectual disability; RARS2; WWOX

PMID:
27121845
DOI:
10.1007/s11011-016-9827-9
[PubMed - in process]
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