Clinical Genetics
Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy
Zhang Yuxin, Xia Yanjie, Wu Qinghua, Ren Yilin, Kong Xiangdong, Sheng Guangyao
Published 2022-07-10
Cite as Chin J Med Genet, 2022, 39(7): 722-726. DOI: 10.3760/cma.j.cn511374-20210207-00119
Abstract
ObjectiveTo analyze the clinical features and genetic basis for a child featuring elevated creatine kinase (CK).
MethodsNext-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.
ResultsThe 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.
ConclusionThe 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.
Key words:
Fukuyama congenital muscular dystrophy; Congenital muscular dystrophy; FKTN gene; Genetic variant
Contributor Information
Zhang Yuxin
Department of Pediatrics, The First Affiliated Hospital of Henan University of Science and Technology, Luoyang, Henan 471003, China
Xia Yanjie
Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Wu Qinghua
Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Ren Yilin
Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Kong Xiangdong
Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
Sheng Guangyao
Department of Pediatrics, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China
