Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
- Authors
- Ko, Young Jun; Cho, Anna; Kim, Woo Joong; Kim, Soo Yeon; Lim, Byung Chan; Kim, Hunmin; Hwang, Hee; Choi, Ji Eun; Kim, Ki Joong; Chae, Jong-Hee
- Issue Date
- May-2023
- Publisher
- Elsevier Ltd
- Keywords
- Alpha dystroglycanopathy; Genotype; Muscular dystrophy; Phenotype
- Citation
- Neuromuscular Disorders, v.33, no.5, pp 425 - 431
- Pages
- 7
- Journal Title
- Neuromuscular Disorders
- Volume
- 33
- Number
- 5
- Start Page
- 425
- End Page
- 431
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74614
- DOI
- 10.1016/j.nmd.2023.03.009
- ISSN
- 0960-8966
1873-2364
- Abstract
- α-Dystroglycanopathies are a clinically and genetically heterogeneous group of muscular dystrophies associated with the defective glycosylation of α-dystroglycan (α-DG). Eighteen genes associated with α-dystroglycanopathies have been identified, and the relative prevalence of genetic subtypes varies with ethnicity. Here, we investigated the clinical and genetic characteristics of α-DG-related muscular dystrophy in the Korean pediatric population. We analyzed the clinical characteristics and variant profiles of 42 patients with α-DG-related muscular dystrophies diagnosed by either reduced glycosylation of α-DG and/or genetic confirmation. Genotype-phenotype correlations were explored by a retrospective medical record review. The muscle-eye-brain disease/Fukuyama congenital muscular dystrophy was the most common phenotype (28/42, 66.7%). Homozygous or compound heterozygous variants were detected in 37 patients belonging to 34 unrelated families (37/42; 88.1%). Pathogenic variants were identified in FKTN (n = 24), POMGNT1 (n = 4), GMPPB (n = 4), FKRP (n = 2), POMT1 (n = 2), and ISPD (n = 1). Compound heterozygous retrotransposal insertions and deep-intronic variants in FKTN were the most common genotypes and were associated with severe phenotypes. This study suggests that α-DG-related muscular dystrophy has a wide range of genotypes and phenotypes according to ethnicity. A stratified genetic test according to ethnicity should be considered to diagnose α-DG-related muscular dystrophy. © 2023 Elsevier B.V.
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