title: Nonsyndromic X-linked mental retardation: where are the missing mutations?
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.
authors.affiliation: Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin, Germany. ropers@molgen.mpg.de
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Maria
authors.initials: M
authors.lastname: Hoeltzenbein
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Helger
authors.initials: H
authors.lastname: Yntema
authors.forename: Ben
authors.initials: B
authors.lastname: Hamel
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
authors.forename: Jamel
authors.initials: J
authors.lastname: Chelly
authors.forename: Michael
authors.initials: M
authors.lastname: Partington
authors.forename: Jozef
authors.initials: J
authors.lastname: Gecz
authors.forename: Claude
authors.initials: C
authors.lastname: Moraine
mesh_terms: D041321:Chromosomes, Human, X; D008040:Genetic Linkage; D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype