Aharoni Sharon, Sadeh Menachem, Shapira Yehuda, Edvardson Simon, Daana Muhannad, Dor-Wollman Talia, Mimouni-Bloch Aviva, Halevy Ayelet, Cohen Rony, Sagie Liora, Argov Zohar, Rabie Malcolm, Spiegel Ronen, Chervinsky Ilana, Orenstein Naama, Engel Andrew G, Nevo Yoram
Institute of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Department of Neurology, Wolfson Medical Center, Holon, Israel.
Neuromuscul Disord. 2017 Feb;27(2):136-140. doi: 10.1016/j.nmd.2016.11.014. Epub 2016 Nov 24.
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.
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检查结果进行靶向突变分析。对伊朗和/或伊拉克犹太裔患者进行了额外的特定检测。回顾了所有病历，并记录了临床数据、基因突变和结果。从35个家庭中鉴定出45名已知CMS基因存在基因突变的患者。在以色列的13个家族中鉴定出RAPSN基因突变。最常见的突变是c.-38A>G，在8名伊朗和/或伊拉克犹太裔患者中检测到。在11个家族中鉴定出COLQ的4种不同隐性突变，其中10个家族为穆斯林阿拉伯血统。在7个家族中鉴定出CHRNE基因突变。较少检测到的突变存在于CHRND、CHAT、GFPT1和DOK7中。总之，RAPSN和COLQ基因突变是我们队列中CMS最常见的病因。COLQ、RAPSN和CHRNE的特定突变发生在特定种族人群中，当怀疑诊断为CMS时应予以考虑。
