Two Cases of Facioscapulohumeral Muscular Dystrophy 2 in Korea.

Abstract:

:Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant muscular disorder characterized by weakness of facial, shoulder, abdominal, hip girdle, humeral, and anterior distal leg muscles, with descending progression from the face to the legs in an asymmetric pattern. In about 5% of patients with FSHD, no D4Z4 repeat contraction on chromosome 4q35 is observed; this disease entity is called FSHD2. FSHD2 is characterized by DNA hypomethylation on the 4q-subtelomeric macrosatellite repeat array D4Z4. In Korea, there have been no previous reports of FSHD2. We report the first two cases of FSHD2 in Korea, carrying c.3801delG and c.1580C>T mutations in the SMCHD1 gene, respectively. For rapid and accurate diagnosis of FSHD2, genetic analysis of the D4Z4 haplotype and methylation with next-generation sequencing are required.

journal_name

Yonsei Med J

journal_title

Yonsei medical journal

authors

Lee JH,Park HJ,Seong MW,Park SS,Choi YC

doi

10.3349/ymj.2021.62.1.95

subject

Has Abstract

pub_date

2021-01-01 00:00:00

pages

95-98

issue

1

eissn

0513-5796

issn

1976-2437

pii

62.95

journal_volume

62

pub_type

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