A Case of a Patient with Calpainopathy Carrying Compound Heterozygous Mutations of a de novo Pathogenic Variant of c.1333G & gt;A and a Novel Variant of c.1331C & gt;T in CAPN3

Intern Med. 2024 Mar 18. doi: 10.2169/internalmedicine.3435-23. Online ahead of print.ABSTRACTCalpainopathy 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.PMID:38494715 | DOI:10.2169/internalmedicine.3435-23
Source: Internal Medicine - Category: Internal Medicine Authors: Source Type: research