Mutations of <i>SCN4A</i> gene cause different diseases: 2 case reports and literature review

Liu, Xiaoli; Huang, Xiaojun; Luan, Xinghua; Zhou, Haiyan; Tian, Weijun; Wang, Jingyi; Chen, Shengdi; Tang, Huidong; Cao, Li

doi:10.1080/19336950.2015.1012945

Cited by 16 publications

(10 citation statements)

References 20 publications

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“…The genetic testing results of this family suggest that the mutation of R675Q in the SCN4A gene comes from the father, and the brother also carries the gene. Compared with the previously reported cases of NormoKPP, the familial NormoKPP caused by the mutation of p.R675Q in the SCN4A gene has not been reported (7, 8, 12). The clinical features of such patients were long duration of muscle weakness symptoms and slow recovery of muscle strength.…”

Section: Discussionmentioning

confidence: 60%

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Shi

Liu

et al. 2019

Front. Neurol.

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Objective: To investigate the clinical features, skeletal muscle imaging, and muscle pathological characteristics of normokalemic periodic paralysis (NormoKPP) caused by mutation of SCN4A gene p.R675Q.Methods: The clinical data, skeletal muscle imaging, pathological data, and gene test results of a family with NormoKPP were collected in detail in October 2018. The previous literature was reviewed and used for comparative analysis.Results: The proband was a 28-year-old male with paroxysmal weakness of both lower limbs for 14 years. Limb weakness was mainly manifested in the proximal extremities of both lower limbs, which occurred two to three times a year. The muscle weakness of each attack lasted for 1–2 weeks and gradually recovered. The blood potassium levels were normal. The abnormal signals of the posterior thigh muscle group and the medial calf muscle group could be seen on the magnetic resonance imaging (MRI) of the skeletal muscle, and the target-fiber could be seen in some muscle fibers in muscle pathology. The father of the proband and his brother had the same symptoms. In the same family, 10 people received genetic testing. The results showed that five had a mutation of SCN4A gene p.R675Q. The mutation gene came from the father of the proband.Conclusion: NormoKPP is a clinically rare form of sodium ion channel disease. The clinical manifestations, skeletal muscle imaging, and pathological changes are different from the common hypokalemic periodic paralysis. SCN4A gene detection is an important means for the diagnosis of NormoKPP.

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Section: Discussionmentioning

confidence: 60%

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Shi

Liu

et al. 2019

Front. Neurol.

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“…35,36 In contrast, the proband and other affected members of family 6 in our study did not show painful myotonia, consistent with another study of Caucasians and a recently report in a Chinese family. 12,27 These findings suggest the possibility that the V445M mutation may be associated with different phenotypes depending on other factors, including geographic area and ethnicity.…”

Section: Discussionmentioning

confidence: 88%

“…Indeed, in Chinese populations, fewer than 20 mutations in CLCN1 have been associated with MC [6][7][8][9][10][11] and only 8 mutations in SCN4A have been associated with SCM or PC. [12][13][14][15][16][17][18][19] Clarifying the genotype-phenotype relationships specifically in Chinese patients is particularly important given that studies primarily in other ethnic groups have shown that mutations in the 2 genes can lead to clinically indistinguishable myotonias, while certain mutations in either gene can give rise to a spectrum of clinically heterogeneous phenotypes. 20,21 To gain further insight into mutations that may contribute to MC, SCM and PC, as well as clarify genotype-phenotype relationships, we analyzed CLCN1 and SCN4A in 10 families with Nondystrophic myotonias from southwest China.…”

Section: Introductionmentioning

confidence: 99%

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature

Yang

et al. 2016

Channels

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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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“…A previous report focused on a case of confirmed SCN4A gene mutation through NGS. Moreover, both the hypoPP pattern and the phenotype of normokalemic periodic paralysis were observed 6) . Table 1 summarizes the characteristics of patients who have previously been identified with the SCN4A mutation.…”

Section: Discussionmentioning

confidence: 99%

Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review

Kim

Jeon

Lee

et al. 2021

Electrolyte Blood Press

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Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal dominant inheritance, but some are found in patients with no relevant family history. A 28-year-old man who visited the emergency room for paralytic attack was assessed in this study. He exhibited motor weakness in four limbs. There was no previous medical history or family history. The initial electrocardiogram showed a flat T wave and QT prolongation. His blood test was delayed, and sudden hypotension and bradycardia were observed. The blood test showed severe hypokalemia. After correcting hypokalemia, his muscle paralysis recovered without any neurological deficits. The patient's thyroid function and long exercise test results were normal. However, because of the history of high carbohydrate diet and exercise, hypoPP was suspected. Hence, next-generation sequencing (NGS) was performed, and a mutation of Arg669His was noted in the SCN4A gene. Although hypoPP is a rare disease, it can be suspected in patients with hypokalemic paralysis, and iden tification of this condition is important for preventing further attacks and improving patient outcomes. Diagnosing hypoPP through targeted NGS is a cost-effective and useful method.

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Mutations of SCN4A gene cause different diseases: 2 case reports and literature review

Abstract: y These authors equally contributed to this work.

Cited by 16 publications

References 20 publications

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

SCN4A p.R675Q Mutation Leading to Normokalemic Periodic Paralysis: A Family Report and Literature Review

Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature

Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review

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