Nonsyndromic X-linked mental retardation: Where are the missing mutations?

Hans Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, Helger Yntema, Ben Hamel, Jean Pierre Fryns, Jamel Chelly, Michael Partington, Jozef Gecz, Claude Moraine

Research output: Contribution to journalReview article

58 Citations (Scopus)

Abstract

Analysis of linkage intervals from 125 unrelated families with nonsyndromic X-linked mental retardation (NS-XLMR) has revealed that the respective gene defects are conspicuously clustered in defined regions of the human X-chromosome, with approximately 30% of all mutations being located on the proximal Xp. In 83% of these families, underlying gene defects are not yet known. Our observations should speed up the search for mutations that are still missing and pave the way for the molecular diagnosis of this common disorder.

LanguageEnglish
Pages316-320
Number of pages5
JournalTrends in Genetics
Volume19
Issue number6
DOIs
Publication statusPublished - 1 Jun 2003
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Cite this

Ropers, H. H., Hoeltzenbein, M., Kalscheuer, V., Yntema, H., Hamel, B., Fryns, J. P., ... Moraine, C. (2003). Nonsyndromic X-linked mental retardation: Where are the missing mutations? Trends in Genetics, 19(6), 316-320. https://doi.org/10.1016/S0168-9525(03)00113-6