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Trends Genet. 2003 Jun;19(6):316-20.

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

Author information

1
Max-Planck Institut für Molekulare Genetik, Ihnestrasse 73, D-14195 Berlin, Germany. ropers@molgen.mpg.de

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.

PMID:
12801724
DOI:
10.1016/S0168-9525(03)00113-6
[Indexed for MEDLINE]

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