Null variants in DYSF result in earlier symptom onset

Hyung Jun Park, Young Bin Hong, Ji Man Hong, Un Kyu Yun, Seung Woo Kim, Ha Young Shin, Seung Min Kim, Young Chul Choi

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)396-406
Number of pages11
JournalClinical Genetics
Issue number3
Publication statusPublished - 2021 Mar

Bibliographical note

Publisher Copyright:
© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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