钙黏蛋白编码基因19基因突变致仅限女性的癫痫伴智力低下2例

发布时间：2018-02-27 13:34

本文关键词： 限于女性的癫痫伴智力低下钙黏蛋白编码基因 Dravet综合征新发突变　出处：《中南大学学报(医学版)》2017年06期 　论文类型：期刊论文

【摘要】：限于女性的癫痫伴智力低下(epilepsy with mental retardation limited to females,EFMR)是一种其主要特点为婴儿期或幼儿早期发病、一般仅累及女性、发作有热敏感性的儿童期癫痫综合征,国外文献报道钙黏蛋白基因超家族亚型钙黏蛋白编码基因19(protocadherin 19,PCDH19)为其致病基因。作者对2015年中南大学湘雅医院小儿神经内科诊断的2例PCDH19新发突变所致的EFMR患者临床资料进行回顾性分析,并查阅PubMed,OMIM和HGMD等数据库,结合相关文献总结其临床特征。2例患儿均符合PCDH19突变致EFMR的典型临床表现,癫痫发作均存在热敏感性,发作时伴或不伴尖叫、发作形式多样、常伴有认知损害或自闭症样表现,血尿筛查未见明显异常,头颅磁共振成像无特征性改变,癫痫基因芯片测序分析发现PCDH19新发突变。此疾病与神经型钠离子通道α1亚单位SCN1A突变所致的Dravet综合征临床表现极为相似,因此,对于SCN1A基因突变阴性的临床表现与Dravet综合征相似的患儿,特别是女性,应考虑PCDH19所致EFMR的可能。早期进行PCDH19基因检测,不仅对于临床医师了解和分析该病预后,而且对于向家长提供遗传咨询,都具有重要意义。
[Abstract]:Epilepsy with mental retardation limited to female is one of the main characteristics of Epilepsy in infancy or early infancy. It is reported in foreign literature that the superfamily of cadherin gene (Cam gene 19) is the pathogenetic gene of cadherin 19 (PCDH19). The authors reviewed two cases of EFMR patients diagnosed in the Department of Pediatric Neurology, Xiangya Hospital of Central South University in 2015, who were caused by a new mutation in PCDH19. The bed data were analyzed retrospectively, The clinical features of 2 children with OMIM and HGMD were all in accordance with the typical clinical manifestations of EFMR caused by PCDH19 mutation. All epileptic seizures had heat sensitivity, with or without screams, and the forms of seizures were varied. Often accompanied by cognitive impairment or autistic manifestations, hematuria screening did not show significant abnormal, no characteristic changes in cranial magnetic resonance imaging, Sequenced analysis of epileptic gene chip revealed a new mutation in PCDH19. This disease is very similar to the clinical manifestation of Dravet syndrome caused by the mutation of 伪 1 subunit of neuronal natrium channel. For children whose SCN1A gene mutation is similar to that of Dravet syndrome, especially for women, the possibility of EFMR induced by PCDH19 should be considered. Early detection of PCDH19 gene is not only useful for clinicians to understand and analyze the prognosis of the disease. And for parents to provide genetic advice, are of great significance.
【作者单位】：中南大学湘雅医院儿科湖南省儿童智力障碍研究中心;
【基金】：国家自然科学基金(81370771)~~
【分类号】：R742.1

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