Internal medicine (Tokyo, Japan) · 2024
A Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a De Novo Pathogenic Variant of c.1333G>A and a Novel Variant of c.1331C>T in CAPN3.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Komaki Shogo, Kubota Akatsuki, Katsuse Kazuto, Kitamura Asuka, Maeda Meiko, Matsukawa Takashi, Eura Nobuyuki, Saito Yoshihiko, Nishino Ichizo, Toda Tatsushi
Аннотация
Calpainopathy is primarily an autosomal recessive inherited myopathy; however, dominantly inherited cases with a pathogenic variant of c.1333G>A have been reported. A 13-year-old Japanese girl presented with toe walking and elevated serum creatine kinase levels. Genetic panel testing revealed compound heterozygosity for c.1333G>A and a novel variant of c.1331C>T in CAPN3, leading to a diagnosis of calpainopathy. A genetic analysis of her parents revealed the possibility that c.1333G>A was de novo. In this patient, the onset age was earlier than that of the reported autosomal dominant cases, suggesting the influence of the novel variant in the contralateral allele.