SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review
SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of congenital myasthenic syndrome and congenital myopathy....
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| Format: | Article |
| Language: | English |
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Elsevier
2024-01-01
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| Series: | Heliyon |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844023108711 |
| _version_ | 1797336959101698048 |
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| author | Tina Yee-Ching Chan Ling-Yin Hung Tiffany Yan-Lok Lam Bun Sheng Frank Ying-Kit Leung Hencher Han-Chih Lee |
| author_facet | Tina Yee-Ching Chan Ling-Yin Hung Tiffany Yan-Lok Lam Bun Sheng Frank Ying-Kit Leung Hencher Han-Chih Lee |
| author_sort | Tina Yee-Ching Chan |
| collection | DOAJ |
| description | SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of congenital myasthenic syndrome and congenital myopathy. Diagnosis is challenging as the initial clinical presentation and histological features on muscle biopsies are non-specific. We report a Han Chinese patient presented with congenital myopathy with two missense SCN4A variants. The patient had an antenatal history of reduced fetal movements, polyhydramnios and a very preterm birth. At birth, she was noted to have low Apgar score, respiratory distress syndrome and hypotonia. Delayed motor development was noted in early childhood. Dysmorphic features such as an elongated face, dolichocephaly and high arched palate were present. At 16 years of age, the patient developed progressive muscle weakness and was wheelchair-bound by age 20. Muscle biopsy revealed non-specific changes only. Targeted hereditary myopathy panel testing by next generation sequencing revealed two previously unreported missense variants c.1841A > T p.(Asn614Ile) and c.4420G > A p.(Ala1474Thr) in the SCN4A gene. The clinical features of SCN4A-related congenital myopathy and myasthenic syndrome were reviewed. This case exemplifies the utility of next generation sequencing in the diagnosis of undifferentiated muscle disease. |
| first_indexed | 2024-03-08T09:02:25Z |
| format | Article |
| id | doaj.art-57424c0bd7fa41e8b7a2a3a71d9c5f27 |
| institution | Directory Open Access Journal |
| issn | 2405-8440 |
| language | English |
| last_indexed | 2024-03-08T09:02:25Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj.art-57424c0bd7fa41e8b7a2a3a71d9c5f272024-02-01T06:32:49ZengElsevierHeliyon2405-84402024-01-01101e23663SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature reviewTina Yee-Ching Chan0Ling-Yin Hung1Tiffany Yan-Lok Lam2Bun Sheng3Frank Ying-Kit Leung4Hencher Han-Chih Lee5Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative RegionKowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative RegionDepartment of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative RegionDepartment of Medicine and Geriatrics, Princess Margaret Hospital, Hong Kong Special Administrative RegionKowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region; Department of Pathology, Yan Chai Hospital, Hong Kong Special Administrative RegionKowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region; Corresponding author. Department of Pathology, Princess Margaret Hospital, Hong Kong Special Administrative Region.SCN4A mutations have been shown to be associated with myotonia, paramyotonia congenita, and periodic paralyses. More recently, loss-of-function variants in the SCN4A gene were also noted to be associated with rarer, autosomal recessive forms of congenital myasthenic syndrome and congenital myopathy. Diagnosis is challenging as the initial clinical presentation and histological features on muscle biopsies are non-specific. We report a Han Chinese patient presented with congenital myopathy with two missense SCN4A variants. The patient had an antenatal history of reduced fetal movements, polyhydramnios and a very preterm birth. At birth, she was noted to have low Apgar score, respiratory distress syndrome and hypotonia. Delayed motor development was noted in early childhood. Dysmorphic features such as an elongated face, dolichocephaly and high arched palate were present. At 16 years of age, the patient developed progressive muscle weakness and was wheelchair-bound by age 20. Muscle biopsy revealed non-specific changes only. Targeted hereditary myopathy panel testing by next generation sequencing revealed two previously unreported missense variants c.1841A > T p.(Asn614Ile) and c.4420G > A p.(Ala1474Thr) in the SCN4A gene. The clinical features of SCN4A-related congenital myopathy and myasthenic syndrome were reviewed. This case exemplifies the utility of next generation sequencing in the diagnosis of undifferentiated muscle disease.http://www.sciencedirect.com/science/article/pii/S2405844023108711SCN4ACongenital myopathyCongenital myasthenic syndromeChannelopathiesSodium channel |
| spellingShingle | Tina Yee-Ching Chan Ling-Yin Hung Tiffany Yan-Lok Lam Bun Sheng Frank Ying-Kit Leung Hencher Han-Chih Lee SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review Heliyon SCN4A Congenital myopathy Congenital myasthenic syndrome Channelopathies Sodium channel |
| title | SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review |
| title_full | SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review |
| title_fullStr | SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review |
| title_full_unstemmed | SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review |
| title_short | SCN4A-related congenital myopathy in a Han Chinese patient: A case report and literature review |
| title_sort | scn4a related congenital myopathy in a han chinese patient a case report and literature review |
| topic | SCN4A Congenital myopathy Congenital myasthenic syndrome Channelopathies Sodium channel |
| url | http://www.sciencedirect.com/science/article/pii/S2405844023108711 |
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