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FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1

 Hyung Jun Park  ;  Wookjae Lee  ;  Se Hoon Kim  ;  Jung Hwan Lee  ;  Ha Young Shin  ;  Seung Min Kim  ;  Kee Duk Park  ;  Ji Hyun Lee  ;  Young Chul Choi 
 Yonsei Medical Journal, Vol.59(2) : 337-340, 2018 
Journal Title
 Yonsei Medical Journal 
Issue Date
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.
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1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이정환(Lee, Jung Hwan)
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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