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

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish
Pages (from-to)337-340
Number of pages4
JournalYonsei Medical Journal
Issue number2
StatePublished - Mar 2018

Bibliographical note

Funding Information:
This research was supported by Memorial Foundation for Dr. Suh Succ-jo by named Hyangseal, Korean Neurological Association Grant No. KNA-14-HS-01.

Publisher Copyright:
© Yonsei University College of Medicine 2018.


  • FAT1
  • Facioscapulohumeral muscular dystrophies
  • Muscular dystrophy


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