Spinocerebellar ataxia type 21 exists in the Chinese Han population.
Spinocerebellar ataxia type 21 exists in the Chinese Han population.
复制标题
中国汉族人群中存在 21 型脊髓小脑共济失调。
DOI：
10.1038/srep19897
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发表时间：
2016-01-27
影响因子：
4.6
通讯作者：
Wang J
中科院分区：
文献类型：
--
作者：
Zeng S;Zeng J;He M;Zeng X;Zhou Y;Liu Z;Xia K;Pan Q;Jiang H;Shen L;Yan X;Tang B;Wang J
最近，跨膜蛋白240（TMEM 240）的突变被确定为在几个法国家庭的脊髓小脑共济失调21型（SCA 21）的原因。临床上，SCA 21的特征是早发性、缓慢进展的小脑综合征，通常与认知障碍相关。迄今为止，SCA 21的分子筛查尚未在其他种族或其他地区的患者中报道。在这里，我们使用桑格测序检测TMEM 240外显子的突变在340个无关的先证者与脊髓小脑共济失调，其中通常已知的致病突变已被排除（96个常染色体显性遗传脊髓小脑共济失调家族先证者和244例散发性脊髓小脑共济失调患者）。结果，在一个散发性SCA患者中发现了一个新的错义突变（c.509C > T/p.P170L）。该疾病表现为早发性（30岁）、缓慢进行性小脑共济失调伴轻度早期明显智力低下、轻度额叶行为障碍和故意手震颤。虽然罕见，但在中国大陆发现并描述了一例SCA 21病例，从而扩大了SCA 21的种族分布，超出了法国家庭。
Recently, mutations in transmembrane protein 240 (TMEM240) were identified as the cause of spinocerebellar ataxia type 21 (SCA21) in several French families. Clinically, SCA21 is characterized as an early-onset, slowly progressive cerebellar syndrome typically associated with cognitive impairment. To date, molecular screening of SCA21 has not been reported among patients of other ethnic origins or in other areas. Here we used Sanger sequencing to detect mutations in exons of TMEM240 in 340 unrelated probands with spinocerebellar ataxia for whom commonly known causative mutations have been excluded (96 probands of autosomal dominant spinocerebellar ataxia families and 244 patients with sporadic spinocerebellar ataxia). As a result, a de novo missense mutation (c.509C > T/p.P170L) was identified in one sporadic SCA patient. The condition manifested as early-onset (30 years old), slowly progressive cerebellar ataxia accompanied by mild early evidenced mental retardation, mild frontal behavior disorders and intentional hand tremors. Although rare, a SCA21 case was identified and described in mainland China, thus broadening the ethnic distribution of SCA21 beyond French families.