Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
Congenital myasthenic syndrome in Israel: Genetic and clinical characterization.
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以色列的先天肌关系综合征：遗传和临床表征。
DOI：
10.1016/j.nmd.2016.11.014
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发表时间：
2017-02
期刊：
影响因子：
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通讯作者：
Nevo Y
中科院分区：
文献类型：
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作者：
Aharoni S;Sadeh M;Shapira Y;Edvardson S;Daana M;Dor-Wollman T;Mimouni-Bloch A;Halevy A;Cohen R;Sagie L;Argov Z;Rabie M;Spiegel R;Chervinsky I;Orenstein N;Engel AG;Nevo Y
该研究的目的是评估以色列先天性肌无力综合征（CMS）患者的流行病学情况。根据已知CMS的临床症状和电生理结果进行靶向突变分析。在伊朗和/或伊拉克犹太血统的患者中进行了额外的特定测试。所有的医疗记录进行了审查，并记录了临床数据，基因突变和结果。从35个家系中确定了45例已知CMS基因突变的患者。在以色列的13个亲属中发现了RAPSN突变。最常见的突变是c在8名伊朗和/或伊拉克犹太血统的患者中检测到38 A>G。在11个亲属中发现了四种不同的COLQ隐性突变，其中10个是穆斯林-阿拉伯血统。在7个家系中发现CHRNE基因突变。不太常见的突变是CHRND，CHAT，GFPT 1和DOK 7。总之，RAPSN和COLQ突变是我们队列中CMS的最常见原因。COLQ，RAPSN和CHRNE的特定突变发生在特定的种族人群中，当怀疑CMS诊断时应考虑在内。
The objective of the study was to evaluate the epidemiology of patients with congenital myasthenic syndrome (CMS) in Israel. Targeted mutation analysis was performed based on the clinical symptoms and electrophysiological findings for known CMS. Additional specific tests were performed in patients of Iranian and/or Iraqi Jewish origin. All medical records were reviewed and clinical data, genetic mutations and outcomes were recorded. Forty-five patients with genetic mutations in known CMS genes from 35 families were identified. Mutations in RAPSN were identified in 13 kinships in Israel. The most common mutation was c.-38A>G detected in 8 patients of Iranian and/or Iraqi Jewish origin. Four different recessive mutations in COLQ were identified in 11 kinships, 10 of which were of Muslim-Arab descent. Mutations in CHRNE were identified in 7 kinships. Less commonly detected mutations were in CHRND, CHAT, GFPT1 and DOK7. In conclusion, mutations in RAPSN and COLQ are the most common causes of CMS in our cohort. Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations and should be taken into account when the diagnosis of a CMS is suspected.