Candidate genes for recessive non-syndromic mental retardation on chromosome 3p (MRT2A)

Clin Genet. 2004 Jun;65(6):496-500. doi: 10.1111/j.0009-9163.2004.00267.x.

Abstract

A mild type of autosomal recessive, non-syndromic mental retardation (NSMR) is linked to loci on chromosome 3p. This report delimits the MRT2A minimal critical region to 4.2 Mb between loci D3S3630 and D3S1304. This interval contains nine genes (IL5RA, TRNT1, LRRN1, SETMAR, SUMF1, ITPR1, BHLHB2, EDEM, and MRPS36P1). The results suggest that a mutation does not exist in these genes and that an unknown transcript in the region contributes to the cognitive deficits in NSMR.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Chromosomes, Human, Pair 3 / genetics*
  • Contig Mapping
  • DNA Mutational Analysis
  • Exons / genetics
  • Genes, Recessive / genetics*
  • Genetic Predisposition to Disease*
  • Humans
  • Intellectual Disability / genetics*
  • Mutation / genetics*
  • Pedigree