Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2022
[Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy].
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Zhang Yuxin, Xia Yanjie, Wu Qinghua, Ren Yilin, Kong Xiangdong, Sheng Guangyao
Аннотация
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.
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.