Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders

H. J. Park, H. Jang, J. H. Kim, J. H. Lee, H. Y. Shin, S. M. Kim, K. D. Park, S. V. Yim, J. H. Lee, Youngchul Choi

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Abstract

Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous genetic disorders. We investigated the mutational spectrum and genotype–phenotype correlations in Korean patients with IMD. We developed a targeted panel of 69 known IMD genes and recruited a total of 209 Korean patients with IMD. Targeted capture sequencing identified 994 different variants. Among them, 98 variants were classified as pathogenic/likely pathogenic variants; 38 were novel variations. A total of 39 patients had the pathogenic/likely pathogenic variants. Among them, 75 (36%) patients were genetically confirmed, and 18 (9%) patients had one heterozygous variant of recessive myopathy. However, two genetically confirmed patients had an additional heterozygous variant of another recessive myopathy. Four patients with one heterozygous variant of a recessive myopathy showed different phenotypes, compared with the known phenotype of the identified gene. The major causative genes of Korean patients with IMDs were DMD (19 patients), COL6A1 (9), DYSF (9), GNE (7), LMNA (7), CAPN3 (6), and RYR1 (5). This study showed the mutational and clinical spectra in Korean patients with IMD and confirmed the usefulness of strategies utilizing targeted sequencing.

Original languageEnglish
Pages (from-to)403-410
Number of pages8
JournalClinical Genetics
Volume91
Issue number3
DOIs
Publication statusPublished - 2017 Mar 1

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Muscular Diseases
Genes
Phenotype
Inborn Genetic Diseases

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Park, H. J. ; Jang, H. ; Kim, J. H. ; Lee, J. H. ; Shin, H. Y. ; Kim, S. M. ; Park, K. D. ; Yim, S. V. ; Lee, J. H. ; Choi, Youngchul. / Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. In: Clinical Genetics. 2017 ; Vol. 91, No. 3. pp. 403-410.
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Park, HJ, Jang, H, Kim, JH, Lee, JH, Shin, HY, Kim, SM, Park, KD, Yim, SV, Lee, JH & Choi, Y 2017, 'Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders', Clinical Genetics, vol. 91, no. 3, pp. 403-410. https://doi.org/10.1111/cge.12826

Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. / Park, H. J.; Jang, H.; Kim, J. H.; Lee, J. H.; Shin, H. Y.; Kim, S. M.; Park, K. D.; Yim, S. V.; Lee, J. H.; Choi, Youngchul.

In: Clinical Genetics, Vol. 91, No. 3, 01.03.2017, p. 403-410.

Research output: Contribution to journalArticle

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AU - Lee, J. H.

AU - Choi, Youngchul

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