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

被引：55

作者：

Ropers, HH

Hoeltzenbein, M

Kaischeuer, V

Yntema, H

Hamel, B

Fryns, JP

Chelly, J

Partington, M

Gecz, J

Moraine, C

机构：

[1] Max Planck Inst Mol Genet, D-14195 Berlin, Germany

[2] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[3] UZ Gasthuisberg, Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium

[4] INSERM, Fac Med Cochin, ICGM, U129, F-75014 Paris, France

[5] Hunter Genet, Waratah, NSW 2298, Australia

[6] Univ Newcastle, Waratah, NSW 2298, Australia

[7] Womens & Childrens Hosp, Dept Cytogenet & Mol Genet, Adelaide, SA 5006, Australia

[8] CHU Bretonneau, INSERM, Serv Genet, U316, F-37044 Tours, France

来源：

TRENDS IN GENETICS | 2003年 / 19卷 / 06期

关键词：

D O I：

10.1016/S0168-9525(03)00113-6

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：316 / 320

页数：5

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