Key result
Sequencing of CLCN1 and SCN4A in 10 Chinese families with non-dystrophic myotonias revealed 12 potential disease-causing mutations, including 3 novel mutations that were absent in 400 healthy controls.
Observational (n=410)
No
The identification of 12 potential disease-causing mutations, including 3 novel ones, expands the known genetic spectrum of non-dystrophic myotonias in the Chinese population.
May aid targeted testing in Chinese non-dystrophic myotonia families; leaves open functional validation and larger cohorts.
Myotonia congenita (MC), paramyotonia congenita (PC) and sodium channel myotonias(SCM) were belonged to Non-dystrophic myotonias, in which muscle relaxation is delayed after voluntary or evoked contraction. These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the SCN4A gene have been associated with PC and SCM. Most of these genetics studies have been conducted outside China, only several MC, PC, and SCM families accepted gene scan were reported in China. Therefore we analyzed genetic mutations in CLCN1 and SCN4A in 10 Chinese families clinically diagnosed with Non-dystrophic myotonias. Our result revealed 12 potential disease-causing mutations(3 mutations were novel) that were present in the probands and affected family members. We also reviewed all available literature on mutations linked to these 3 disease in Chinese populations. Our results may help identify genetic determinants as well as clarify genotype-phenotype relationships.
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Yang et al. (2016) conducted an observational in Non-dystrophic myotonias (Myotonia congenita, paramyotonia congenita, sodium channel myotonias) (n=410). CLCN1 and SCN4A mutations vs. Wild-type alleles / healthy controls was evaluated on Identification of potential disease-causing mutations. Sequencing of CLCN1 and SCN4A in 10 Chinese families with non-dystrophic myotonias revealed 12 potential disease-causing mutations, including 3 novel mutations that were absent in 400 healthy controls.
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