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Null variants in DYSF result in earlier symptom onset

Authors
 Hyung Jun Park  ;  Young Bin Hong  ;  Ji-Man Hong  ;  UnKyu Yun  ;  Seung Woo Kim  ;  Ha Young Shin  ;  Seung Min Kim  ;  Young-Chul Choi 
Citation
 CLINICAL GENETICS, Vol.99(3) : 396-406, 2021-03 
Journal Title
 CLINICAL GENETICS 
ISSN
 0009-9163 
Issue Date
2021-03
Keywords
Miyoshi myopathy ; dysferlin ; dysferlinopathy ; genetic profile ; limb-girdle muscular dystrophy ; type 2B
Abstract
We investigated the clinical, laboratory, and genetic spectra in Korean patients with dysferlinopathy to clarify its genotype-phenotype correlation. We retrospectively reviewed 101 patients from 96 unrelated families with pathogenic variants of DYSF. The most common initial phenotype was Miyoshi myopathy in 50 patients. Median ages at examination and symptom onset were 23 [interquartile range (IQR): 18-30] and 36 years [IQR: 27-48], respectively. We observed 38 variants, including nine novel variants. Four variants (c.2494C > T, c.1284 + 2 T > C, c.663 + 1G > C, and c.2997G > T) in DYSF accounted for 62% of total allele frequencies of pathogenic variants. To analyze the genotype-phenotype correlation, we compared the clinical phenotype between patients with null/null (N/N; n = 55) and null/missense variants (N/M; n = 35). The N/N group had an earlier symptom onset age (median: 20 years [IQR: 17-25]) than the N/M group (median: 29 years [IQR: 23-35], p < .001). Total manual muscle testing scores in lower extremities were lower in the N/N group (median: 80 [IQR: 56-92]) than in the N/M group (median: 89 [IQR: 78-98], p = .013). Our study is the first to report that null variants in DYSF result in an earlier symptom onset than missense variants.
Full Text
https://onlinelibrary.wiley.com/doi/10.1111/cge.13887
DOI
10.1111/cge.13887
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Kim, Seung Woo(김승우) ORCID logo https://orcid.org/0000-0002-5621-0811
Park, Hyung Jun(박형준)
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
Hong, Ji Man(홍지만) ORCID logo https://orcid.org/0000-0002-0696-8448
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/182293
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