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Yonsei Med J. 2018 Mar;59(2):337-340. doi: 10.3349/ymj.2018.59.2.337.

FAT1 Gene Alteration in Facioscapulohumeral Muscular Dystrophy Type 1.

Author information

1
Department of Neurology, Gangneung Asan Hospital, University of Ulsan College of Medicine, Gangneung, Korea.
2
Department of Chemistry, Yonsei University, Seoul, Korea.
3
Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
4
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
5
Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
6
Department of Clinical Pharmacology and Therapeutics, College of Medicine, Kyung Hee University, Seoul, Korea.
7
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac.
#
Contributed equally

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.

KEYWORDS:

FAT1; Facioscapulohumeral muscular dystrophies; muscular dystrophy

PMID:
29436205
PMCID:
PMC5823839
DOI:
10.3349/ymj.2018.59.2.337
[Indexed for MEDLINE]
Free PMC Article

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