X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
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DOI：
10.1136/jmg.36.10.759
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发表时间：
1999-10-01
影响因子：
4
通讯作者：
Schwartz, CE
中科院分区：
文献类型：
--
作者：
Christianson, AL;Stevenson, RE;Schwartz, CE
迄今为止，已记录了超过150种X连锁精神发育迟滞（XLMR）状况。我们描述了一个五代南非家庭XLMR，包括16个受影响的男性和10个载体女性。16名男性的共同临床特征包括深度精神发育迟滞（100%）、听力明显正常的缄默症（100%）、癫痫大发作（87.5%）和预期寿命有限（68.8%）。在检查的4只受影响的雄性动物中，所有动物均具有轻度颅面畸形，3只动物出现双侧眼肌麻痹和躯干共济失调。10名女性携带者中有3名患有轻度智力低下。头颅影像学检查和尸检显示小脑和脑干萎缩。连锁分析显示该基因位于标记DXS424（Xq24）和DXS548（Xq27.3）之间，最大两点lod得分为3.10。
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.