[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy].

ABSTRACT

OBJECTIVE: To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK). METHODS: Next-generation sequencing (muscular dystrophy related gene panel) was carried out for the proband. Candidate variants were verified by Sanger sequencing of the child and his parents. RESULTS: The child was found to harbor compound heterozygous variants of the FKTN gene, including a missense c.536G>C (p.R179T) variant from his father and a non-frameshift c.1299_1301delGTG (p.W434del) variant from his mother. Both variants were predicted to be pathogenic. CONCLUSION: The compound heterozygous variants of the FKTN gene probably underlay the disease in this child. Above finding has expanded the mutation spectrum of congenital muscular dystrophy.