Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

ABSTRACT: We describe the characterization of a gene for mild nonsyndromic autosomal recessive intellectual disability (ID) in two unrelated families, one from Austria, the other from Pakistan. Genome-wide single nucleotide polymorphism microarray analysis enabled us to define a region of homozygosity by descent on chromosome 17q25. Whole-exome sequencing and analysis of this region in an affected individual from the Austrian family identified a 5 bp frameshifting deletion in the METTL23 gene. By means of Sanger sequencing of METTL23, a nonsense mutation was detected in a consanguineous ID family from Pakistan for which homozygosity-by-descent mapping had identified a region on 17q25. Both changes lead to truncation of the putative METTL23 protein, which disrupts the predicted catalytic domain and a

SUBMITTER: Bernkopf M 

PROVIDER: S-EPMC4082365 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature