Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

被引：60

作者：

Kleefstra, T

Yntema, HG

Oudakker, AR

Banning, MJG

Kalscheuer, VM

Chelly, J

Moraine, C

Ropers, HH

Fryns, JP

Janssen, IM

Sistermans, EA

Nillesen, WN

de Vries, LBA

Hamel, BCJ

van Bokhoven, H

机构：

[1] Univ Med Ctr St Radboud, Dept Human Genet, Nijmegen, Netherlands

[2] Max Planck Inst Mol Genet, Berlin, Germany

[3] Inst Cochin Genet Mol, Dept Genet & Pathol Mol, F-75014 Paris, France

[4] CHU Bretonneau, Unite Genet, F-37044 Tours, France

[5] Katholieke Univ Leuven Hosp, Ctr Human Genet, Louvain, Belgium

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 05期

关键词：

D O I：

10.1136/jmg.2003.016972

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have cloned the breakpoints of a de novo translocation t( X; 9)( p11.23; q34.3) in a mentally retarded female. The translocation disrupts the gene ZNF81 on the X chromosome. ZNF81 is highly homologous to ZNF41, another zinc finger gene associated with non-specific X-linked mental retardation. Mutation analysis in more than 300 families and patients with non-specific X-linked mental retardation revealed a sequence change p. S179N in MRX45, fully segregating with the phenotype. It is likely that ZNF81 represents a novel MRX gene which is causally involved in a minority of patients with non-specific X-linked mental retardation.

引用

页码：394 / 399

页数：6

共 24 条

[1] Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia [J].