X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27

被引：99

作者：

Christianson, AL

Stevenson, RE

van der Meyden, CH

Pelser, J

Theron, FW

van Rensburg, PL

Chandler, M

Schwartz, CE

机构：

[1] Univ Pretoria, Fac Med, Dept Human Genet & Dev, ZA-0001 Pretoria, South Africa

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

[3] Univ Pretoria, Fac Med, Dept Neurol, ZA-0001 Pretoria, South Africa

[4] Univ Pretoria, Fac Med, Dept Anat Pathol, ZA-0001 Pretoria, South Africa

[5] Gauteng Dept Hlth, Genet Serv Div, Pretoria, South Africa

来源：

JOURNAL OF MEDICAL GENETICS | 1999年 / 36卷 / 10期

关键词：

X linked mental retardation; epilepsy; cerebellar atrophy; ophthalmoplegia;

D O I：

10.1136/jmg.36.10.759

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life expectancy (68.8%). Of the four affected males examined, all had mild craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia and truncal ataxia. Three of 10 obligate female carriers had mild mental retardation. Cerebellar and brain stem atrophy was shown by cranial imaging and postmortem examination. Linkage analysis shows the gene to be located between markers DXS424 (Xq24) and DXS548 (Xq27.3), with a maximum two point lod score of 3.10.

引用

页码：759 / 766

页数：8

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