Andermann综合征一家系临床特征及基因突变分析

Clinical characteristics and genetic analysis of two children with Andermann syndrome

目的分析Andermann综合征患儿的临床及基因突变特点。方法回顾分析2例Andermann综合征患儿的临床特征以及基因检测结果。结果先证者为弟弟,6岁,其哥哥8岁,均有进行性加重的运动感觉神经病的临床表现及发育迟缓。弟弟的肌电图提示神经源性损害,头颅磁共振成像提示胼胝体发育不良;哥哥有关节挛缩及脊柱侧凸。基因分析证实,两例患儿均为SLC12A6基因纯合错义突变c.592 C>T(p.R198C),父母均携带该错义突变。SLC12A6基因突变通过影响其编码的钾/氯协同转运蛋白3(KCC3)的正常功能而引起相应的临床症状。结论 SLC12A6是Andermann综合征唯一的致病基因,临床表型的严重程度与基因的突变类型有关。

Objective To analyze the clinical features and gene mutations of Andermann syndrome. Methods Clinical features and gene testing results in two children with Andermann syndrome were retrospectively analyzed. Results The proband is a 6 years old boy, and his elder brother is 8 years old, both of them had progressive sensory neuropathy and developmental delay. Electromyography of the younger brother indicates nerve damage, and cranial magnetic resonance shows corpus callosum dysplasia; the elder brother has joint contracture and scoliosis. Genetic analysis found the two patients had homozygous missense mutation of c.592 C〉T（p.R198 C） in SLC12 A6, both of their parents were heterozygous mutation carrier of c.592 C〉T（p.R198 C）. SLC12 A6 mutations cause clinical symptoms by affecting the normal function of the K＋/Cl-cotransporter 3. ConclusionsSLC12 A6 is the only known pathogenic gene of Andermann syndrome, and its mutation types are related to the severity of clinical phenotypes.