title: X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings.
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.
authors: Nesrine
authors: N
authors: Bissar-Tadmouri
authors: Whithey L
authors: WL
authors: Donahue
authors: Lihadh
authors: L
authors: Al-Gazali
authors: Stanley F
authors: SF
authors: Nelson
authors: Pinar
authors: P
authors: Bayrak-Toydemir
authors: Sibel
authors: S
authors: Kantarci
mesh_terms: D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D059472:Exome; D050172:Genes, X-Linked; D055106:Genome-Wide Association Study; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA; D012737:Sex Factors; D035781:Siblings
chemical_list: C583889:ALG13 protein, human; D017351:N-Acetylglucosaminyltransferases