Family MRX9 revisited: further evidence for locus heterogeneity in MRX

Am J Med Genet. 2002 Sep 15;112(1):17-22. doi: 10.1002/ajmg.10663.

Abstract

Nonspecific X-linked mental retardation (MRX) patients are characterized by mental retardation, without additional distinguishing features. Consequently, MRX families can only be distinguished by mapping studies; yet, due to imprecise mapping studies performed in the past, the number of genes causing MRX is debatable, and a more precise localization for families is necessary to estimate this number. MRX 9 has been mapped to the pericentromeric region Xp21-q13. We refined the mapping of the MRX9 family to Xp11.22-Xp11.4. A sequencing analysis of three likely candidate genes in Xp11, SREB3, synapsin I, and TM4SF2, revealed no mutations.

Publication types

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

MeSH terms

  • Base Sequence
  • Chromosomes, Human, X*
  • DNA Primers
  • Female
  • Genetic Heterogeneity*
  • Genetic Linkage*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Pedigree

Substances

  • DNA Primers