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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2021.1
- 수록면
- 95 - 98 (4page)
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초록· 키워드
오류제보하기
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness offacial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to thelegs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed;this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeatarray D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carryingc.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, geneticanalysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.
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등록된 정보가 없습니다.
참고문헌 (9)
참고문헌 신청
Sacconi S / 2015 / Facioscapulohumeral muscular dystrophy / Biochim Biophys Acta 1852:607~614
Lemmers RJ / 2015 / Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1and FSHD2 / Hum Mol Genet 24:659~669
Hamel J / 2018 / Facioscapulohumeral muscular dystrophy : update on pathogenesis and future treatments / Neurotherapeutics 15:863~871
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~423
Sacconi S / 2013 / The FSHD2 gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1 / Am J Hum Genet 93:744~751
Lemmers RJ / 2015 / Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1and FSHD2 / Hum Mol Genet 24:659~669
Hamel J / 2018 / Facioscapulohumeral muscular dystrophy : update on pathogenesis and future treatments / Neurotherapeutics 15:863~871
Richards S / 2015 / Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology / Genet Med 17:405~423
Sacconi S / 2013 / The FSHD2 gene SMCHD1 Is a modifier of disease severity in families affected by FSHD1 / Am J Hum Genet 93:744~751
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