Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene
Yükleniyor...
Dosyalar
Tarih
2020
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Turkish Journal of Pediatrics
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Background and objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. Genotypic and phenotypic characteristics of CM may vary according to geographical region and ethnicity. Method. In this study, we present the genotypic and phenotypic characteristics of 20 Turkish CM patients all diagnosed by molecular genetic testing. Results. Eleven of the patients were female. c.1064+1G>A splice-site change, p.Arg338X (c.1012 C>T) stop codon, p.Gly190Ser (c.568_569delinsTC) missense mutations were detected. Eight of the 20 patients were found to be compatible with Becker type and 12 with Thomsen type, based on mode of inheritance, neurological examination findings and genetic test results. Conclusion. The c.1064+1G>A splice-site change mutation, defined for the first time in this study, expands the spectrum of mutations in the CLCN1 gene. Thomsen type and female gender were observed to be more frequent in this series of patients from Turkey. © 2020, Turkish Journal of Pediatrics. All rights reserved.
Açıklama
Anahtar Kelimeler
Becker Disease, Clcn1 Gene, Congenital Myotonia, Thomsen Disease
Kaynak
Turkish Journal of Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
62
Sayı
3
Künye
Özgün, N., & Taşlıdere, H. (2020). Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
