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FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

Title
FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1
Authors
Park, Hyung JunLee, WookjaeKim, Se HoonLee, Jung HwanShin, Ha YoungKim, Seung MinPark, Kee DukLee, Ji HyunChoi, Young-Chul
Ewha Authors
박기덕
SCOPUS Author ID
박기덕scopus
Issue Date
2018
Journal Title
YONSEI MEDICAL JOURNAL
ISSN
0513-5796JCR Link

1976-2437JCR Link
Citation
YONSEI MEDICAL JOURNAL vol. 59, no. 2, pp. 337 - 340
Keywords
Facioscapulohumeral muscular dystrophiesmuscular dystrophyFAT1
Publisher
YONSEI UNIV COLL MEDICINE
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Document Type
Article
Abstract
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array. Recent studies revealed that the FAT1 expression is associated with disease activity of FSHD, and the FAT1 alterations result in myopathy with a FSHD-like phenotype. We describe a 59-year-old woman with both contracted D4Z4 repeat units and a FAT1 mutation. Shoulder girdle muscle weakness developed at the age of 56 years, and was followed by proximal leg weakness. When we examined her at 59 years of age, she displayed asymmetric and predominant weakness of facial and proximal muscles. Muscle biopsy showed increased variation in fiber size and multifocal degenerating fibers with lymphocytic infiltration. Southern blot analysis revealed 8 D4Z4 repeat units, and targeted sequencing of modifier genes demonstrated the c. 10331 A>G variant in the FAT1 gene. This FAT1 variant has previously been reported as pathogenic variant in a patient with FSHD-like phenotype. Our study is the first report of a FAT1 mutation in a FSHD1 patient, and suggests that FAT1 alterations might work as a genetic modifier.
DOI
10.3349/ymj.2018.59.2.337
Appears in Collections:
의과대학 > 의학과 > Journal papers
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