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Low D4Z4 copy number and gender difference in Korean patients with facioscapulohumeral muscular dystrophy type 1

Authors
 Hyung Jun Park  ;  Ji-Man Hong  ;  Jung Hwan Lee  ;  Hyung Seok Lee  ;  Ha Young Shin  ;  Seung Min Kim  ;  Chang-Seok Ki  ;  Ji Hyun Lee  ;  Young-Chul Choi 
Citation
 NEUROMUSCULAR DISORDERS, Vol.25(11) : 859-864, 2015 
Journal Title
 NEUROMUSCULAR DISORDERS 
ISSN
 0960-8966 
Issue Date
2015
MeSH
Adult ; Family ; Female ; Gene Dosage* ; Genetic Association Studies ; Humans ; Korea/epidemiology ; Male ; Middle Aged ; Muscles/pathology ; Muscles/physiopathology ; Muscular Dystrophy, Facioscapulohumeral/epidemiology ; Muscular Dystrophy, Facioscapulohumeral/genetics* ; Muscular Dystrophy, Facioscapulohumeral/pathology ; Muscular Dystrophy, Facioscapulohumeral/physiopathology* ; Severity of Illness Index ; Sex Characteristics* ; Young Adult
Keywords
D4Z4 repeat ; Facioscapulohumeral muscular dystrophy ; Gender difference ; Genotype–phenotype relationship
Abstract
The objective of this study was to investigate the clinical and genetic features of Korean patients with facioscapulohumeral muscular dystrophy type 1 (FSHD), and assessed the impact of molecular defects on phenotypic expression. We enrolled 104 FSHD patients from 87 unrelated Korean families with D4Z4 repeat array of less than 11 copies on 4q35. Sixty-one men and forty-three women were enrolled. Median D4Z4 copy number was 4 units and 99 (95%) Korean patients with FSHD carried 1-6 units. The median age at symptom onset was 13 [interquartile range: 8-17] years old. In 100 symptomatic patients, muscle weakness began in facial muscles in 58 patients, shoulder-girdle muscles in 37, and pelvic-girdle muscles in 5. Disease severity was significantly correlated with D4Z4 copy number. In addition, women were more severely affected than men even though there were no differences in age at examination or in D4Z4 copy number between the two genders. This gender difference among Korean patients was the opposite of analysis on individuals of European ancestry. In conclusion, the present study demonstrated the new diagnostic threshold for FSHD in Koreans based on the D4Z4 repeat array size distribution from 1 to 6 units and expanded the clinical spectrum.
Full Text
http://www.sciencedirect.com/science/article/pii/S096089661500694X
DOI
10.1016/j.nmd.2015.08.004
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Kim, Seung Min(김승민) ORCID logo https://orcid.org/0000-0002-4384-9640
Shin, Ha Young(신하영) ORCID logo https://orcid.org/0000-0002-4408-8265
Lee, Jung Hwan(이정환)
Lee, Ji Hyun(이지현)
Lee, Hyung Seok(이형석)
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/22282913/156704
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