Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
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DOI：
10.1093/brain/awg173
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发表时间：
2003-07-01
期刊：
影响因子：
14.5
通讯作者：
Ramaekers, VT
中科院分区：
文献类型：
--
作者：
Bergmann, C;Zerres, K;Ramaekers, VT
我们在一个有五个兄弟的家庭中发现了一个寡聚蛋白1（OPHN 1）基因突变，该突变受到临床和神经放射学特征的可识别模式的影响。不同的表型包括中度至重度精神发育迟滞、肌阵挛-定向障碍性癫痫、共济失调、斜视和生殖器发育不良。神经影像学显示额颞部萎缩，侧脑室吻侧扩大，下蚓部发育不全和不对称小脑发育不全。对Xq 12上OPHN 1基因的突变分析揭示了外显子19的基因组缺失导致移码。值得注意的是，OPHN 1突变以前曾被报道为非综合征性X连锁精神发育迟滞的罕见原因。然而，我们的研究结果表明，OPHN 1突变导致可识别的综合征。此外，OPHN 1作为与癫痫发作相关的另一个基因的鉴定将有助于阐明癫痫的病因学因素。
We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus and hypogenitalism. Neuroimaging displayed fronto-temporal atrophy with rostral enlargement of the lateral ventricles, lower vermian agenesis and asymmetric cerebellar hypoplasia. Mutation analysis of the OPHN1 gene on Xq12 disclosed a genomic deletion of exon 19 causing a frameshift. Notably, OPHN1 mutations have been previously reported as a rare cause of non-syndromic X-linked mental retardation. Our findings, however, indicate that OPHN1 mutations result in a recognizable syndrome. In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy.