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