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- Title
Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene.
- Authors
Tian, Sheng; Sun, Huan; Gao, Fen-Fang; Zhang, Kang; Nan, Jing; Niu, Mu; Jia, Xiao; Xu, Gang; Ge, Wei
- Abstract
Background: Mutations in the SLC5A7 gene cause congenital myasthenia, a rare genetic disorder. Mutation points in the SLC5A7 gene differ among individuals and encompass various genetic variations; however, exon deletion variants have yet to be reported in related cases. This study aims to explore the clinical phenotype and genetic traits of a patient with congenital myasthenic syndrome due to SLC5A7 gene variation and those of their family members. Case presentation: We describe a case of a Chinese male with congenital myasthenic syndrome presenting fluctuating limb weakness. Genetic testing revealed a heterozygous deletion mutation spanning exons 1–9 in the SLC5A7 gene. QPCR confirmed a deletion in exon 9 of the SLC5A7 gene in the patient's mother and brother. Clinical symptoms of myasthenia improved following treatment with pyridostigmine. Conclusion: Exons 1, 5, and 9 of the SLC5A7 gene encode the choline transporter's transmembrane region. Mutations in these exons can impact the stability and plasma membrane levels of the choline transporter. Thus, a heterozygous deletion in exons 1–9 of the SLC5A7 gene could be the pathogenic cause for this patient. In patients exhibiting fluctuating weakness, positive RNS, and seronegativity for myasthenia gravis antibodies, a detailed family history should be considered, and enhanced genetic testing is recommended to determine the cause.
- Subjects
CONGENITAL myasthenic syndromes; MYASTHENIA gravis; GENETIC mutation; GENETIC testing; DELETION mutation; GENETIC variation
- Publication
BMC Neurology, 2024, Vol 24, Issue 1, p1
- ISSN
1471-2377
- Publication type
Article
- DOI
10.1186/s12883-024-03716-x