XLMR genes: update 2007

被引：120

作者：

Chiurazzi, Pietro ^{[1
]}

Schwartz, Charles E. ^{[2
]}

Gecz, Jozef ^{[3
,4
]}

Neri, Giovanni ^{[1
]}

机构：

[1] Catholic Univ, Inst Med Genet, I-00168 Rome, Italy

[2] Greenwood Genet Ctr, JC Self Res Inst Human Genet, Greenwood, SC 29646 USA

[3] Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA, Australia

[4] Univ Adelaide, Dept Paediat, Adelaide, SA, Australia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2008年 / 16卷 / 04期

关键词：

mental retardation; chromosome X; XLMR conditions;

D O I：

10.1038/sj.ejhg.5201994

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

X-linked mental retardation (XLMR) is a common cause of inherited intellectual disability with an estimated prevalence of similar to 1/1000 males. Most XLMR conditions are inherited as X-linked recessive traits, although female carriers may manifest usually milder symptoms. We have listed 215 XLMR conditions, subdivided according to their clinical presentation: 149 with specific clinical findings, including 98 syndromes and 51 neuromuscular conditions, and 66 nonspecific (MRX) forms. We also present a map of the 82 XLMR genes cloned to date (November 2007) and a map of the 97 conditions that have been positioned by linkage analysis or cytogenetic breakpoints. We briefly consider the molecular function of known XLMR proteins and discuss the possible strategies to identify the remaining XLMR genes. Final remarks are made on the natural history of XLMR conditions and on diagnostic issues.

引用

页码：422 / 434

页数：13

共 66 条

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