Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia

被引：16

作者：

Maggi, Lorenzo ^{[1
]}

Ravaglia, Sabrina ^{[2
]}

Farinato, Alessandro ^{[3
]}

Brugnoni, Raffaella ^{[1
]}

Altamura, Concetta ^{[3
]}

Imbrici, Paola ^{[3
]}

Camerino, Diana Conte ^{[3
]}

Padovani, Alessandro ^{[4
]}

Mantegazza, Renato ^{[1
]}

Bernasconi, Pia ^{[1
]}

Desaphy, Jean-Francois ^{[5
]}

Filosto, Massimiliano ^{[4
]}

机构：

[1] Fdn IRCCS Ist Neurol Carlo Besta, Neurol Neuroimmunol & Neuromuscular Dis Unit 4, Via Celoria 11, I-20133 Milan, Italy

[2] Ist Neurol IRCCS C Mondino, Pavia, Italy

[3] Univ Bari Aldo Moro, Dept Pharm & Drug Sci, Bari, Italy

[4] Univ Brescia, Unit Neurol ASST Spedali Civili, Ctr Neuromuscular Dis & Neuropathies, Brescia, Italy

[5] Univ Bari Aldo Moro, Dept Biomed Sci & Human Oncol, Bari, Italy

来源：

NEUROGENETICS | 2017年 / 18卷 / 04期

关键词：

Congenital myotonia; Skeletal muscle channelopathies; SCN4A gene; CLCN1; gene; Patch clamp; CHLORIDE CHANNEL GENE; REPETITIVE NERVE-STIMULATION; SODIUM-CHANNEL; MUSCLE CHANNELOPATHIES; SKELETAL-MUSCLE; NONDYSTROPHIC MYOTONIA; SLOW INACTIVATION; CONGENITA; PHENOTYPE; PERMANENS;

D O I：

10.1007/s10048-017-0525-5

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Non-dystrophic myotonias are characterized by clinical overlap making it challenging to establish genotype-phenotype correlations. We report clinical and electrophysiological findings in a girl and her father concomitantly harbouring single heterozygous mutations in SCN4A and CLCN1 genes. Functional characterization of N1297S hNav1.4 mutant was performed by patch clamp. The patients displayed a mild phenotype, mostly resembling a sodium channel myotonia. The CLCN1 c.501C > G (p.F167L) mutation has been already described in recessive pedigrees, whereas the SCN4A c.3890A > G (p.N1297S) variation is novel. Patch clamp experiments showed impairment of fast and slow inactivation of the mutated Nav1.4 sodium channel. The present findings suggest that analysis of both SCN4A and CLCN1 genes should be considered in myotonic patients with atypical clinical and neurophysiological features.

引用

页码：219 / 225

页数：7

共 50 条

[1] Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia
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Sabrina Ravaglia
Alessandro Farinato
Raffaella Brugnoni
Concetta Altamura
Paola Imbrici
Diana Conte Camerino
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Renato Mantegazza
Pia Bernasconi
Jean-François Desaphy
Massimiliano Filosto
[J]. neurogenetics, 2017, 18 : 219 - 225
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