Confirmation of the GNB4 gene as causal for Charcot-Marie-Tooth disease by a novel de novo mutation in a Czech patient

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• 作者：Petra La&scaron ; &scaron ; uthová ; ^a ; ^{petra.lassuthova@fnmotol.cz} ; Dana &Scaron ; afka Brožková ; ^a ; Jana Neupauerová ; ^a ; Marcela Krůtová ; ^a ; Radim Mazanec^b ; Pavel Seeman^a
• 关键词：Charcot&ndash ; Marie&ndash ; Tooth disease ; De novo ; Whole exome sequencing ; GNB4
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：27
• 期：1
• 页码：57-60
• 全文大小：624 K
• 卷排序：27

文摘

This is the second paper describing GNB4 mutations as a cause of CMT. De novo variant in the GNB4 gene is very likely the cause of Charcot–Marie–Tooth in a Czech patient. The variant p.Lys57Glu (NM_021629.3:c.169A>G) is evaluated as pathogenic according to the recommendations of ACMG.