NDLI: Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

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Identification of a SCN4A mutation in a large Chinese family with atypical normokalemic periodic paralysis using whole-exome sequencing

Content Provider	SAGE Publishing
Author	Tan, XinYu Hu, SongNian Xie, Zongyu Mei, Hailiang Liu, Yang Yin, Liang Shi, Peng Chen, Qiming Sang, Daoqian
Copyright Year	2020
Abstract	ObjectivesNormokalemic periodic paralysis (NormoKPP) of skeletal muscle is an autosomal dominant disorder caused by mutations in the gene encoding voltage-gated sodium channel protein type 4 subunit alpha (SCN4A), which leads to ion channel dysfunction. Little is known about the relationship between genotype and the clinical symptoms of NormoKPP. The present study aimed to evaluate the genetic variation in a large Chinese family with NormoKPP. The patients in this pedigree did not respond to saline treatment, but calcium gluconate treatment was effective.MethodsWe performed a series of clinical examinations and genetic analyses, using whole-exome and Sanger sequencing, to examine the mutation status of SCN4A in a Chinese family segregating for NormoKPP.ResultsWhole-exome sequencing revealed a c.2111C>T substitution in SCN4A in most of the affected family members. This mutation results in the amino acid substitution p.T704M.ConclusionsThese results support a causative role of this mutation in SCN4A in NormoKPP, and provide information about the relationship between genotype and atypical clinical symptoms.
Related Links	https://journals.sagepub.com/doi/pdf/10.1177/0300060520953643?download=true
ISSN	03000605
Issue Number	9
Volume Number	48
Journal	Journal of International Medical Research (IMR)
e-ISSN	14732300
DOI	10.1177/0300060520953643
Language	English
Publisher	Sage Publications UK
Publisher Date	2020-09-22
Publisher Place	London
Access Restriction	Open
Rights Holder	© The Author(s) 2020
Subject Keyword	whole-exome sequencing ion channel Normokalemic periodic paralysis mutation SCN4A Sanger sequencing
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Cell Biology Biochemistry

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