X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings

Nesrine Bissar-Tadmouri, Whithey L. Donahue, Lihadh Al-Gazali, Stanley F. Nelson, Pinar Bayrak-Toydemir, Sibel Kantarci

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)

Abstract

X-linked intellectual disability (XLID) is a heterogeneous condition associated with mutations in >100 genes, accounting for over 10% of all cases of intellectual impairment. The majority of XLID cases show nonsyndromic forms (NSXLID), in which intellectual disability is the sole clinically consistent manifestation. Here we performed X chromosome exome (X-exome) sequencing to identify the causative mutation in an NSXLID family with four affected male siblings and five unaffected female siblings. The X-exome sequencing at 88× coverage in one affected male sibling revealed a novel missense mutation (p.Tyr1074Cys) in the asparagine-linked glycosylation 13 homolog (ALG13) gene. Segregation analysis by Sanger sequencing showed that the all affected siblings were hemizygous and the mother was heterozygous for the mutation. Recently, a de novo missense mutation in ALG13 has been reported in a patient with X-linked congenital disorders of glycosylation type I. Our study reports the first case of NSXLID caused by a mutation in ALG13 involved in protein N-glycosylation.

Original languageEnglish
Pages (from-to)164-169
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number1
DOIs
Publication statusPublished - Jan 2014

Keywords

  • ALG13
  • Exome sequencing
  • Glycosylation defect
  • Nonsyndromic intellectual disability
  • X-linked intellectual disability

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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