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Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea

Authors
 Jung Hwan Lee  ;  Hyung Jun Park  ;  Moon Woo Seong  ;  Sung Sup Park  ;  Young Chul Choi 
Citation
 YONSEI MEDICAL JOURNAL, Vol.62(1) : 95-98, 2021-01 
Journal Title
 YONSEI MEDICAL JOURNAL 
ISSN
 0513-5796 
Issue Date
2021-01
MeSH
Adult ; Chromosomes, Human, Pair 4 / genetics ; DNA Methylation ; Female ; Haplotypes ; Humans ; Male ; Microsatellite Repeats / genetics ; Muscular Dystrophy, Facioscapulohumeral / genetics* ; Mutation ; Republic of Korea
Keywords
DNA methylation ; Facioscapulohumeral muscular dystrophy ; high-throughput nucleotide sequencing
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs 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 repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.
Files in This Item:
T202100368.pdf Download
DOI
10.3349/ymj.2021.62.1.95
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Park, Hyung Jun(박형준)
Choi, Young Chul(최영철) ORCID logo https://orcid.org/0000-0001-5525-6861
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/182071
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