Different clinicopathological features between Japanese siblings with facioscapulohumeral muscular dystrophy 2 with a novel nonsense SMCHD1 mutation (Arg552∗). (December 2018)

• Record Type: Journal Article
• Authors: Ohta, Yasuyuki; Tadokoro, Koh; Sasaki, Ryo; Takahashi, Yoshiaki; Sato, Kota; Takemoto, Mami; Hishikawa, Nozomi; Shang, Jingwei; Yamashita, Toru; Takehisa, Yasushi; Nishino, Ichizo; Abe, Koji
• Is Part Of: Journal of clinical neuroscience. Volume 58(2018)
• Page Start: 215
• Page End: 217
• Publication Date: 2018-12
• Subjects: D4Z4 -- DNA methylation -- FSHD2 -- SMCHD1; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2018.10.021
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: We report two Japanese FSHD2 siblings with a new SMCHD1 nonsense mutation (p.Arg552 ∗ ). Japanese FSHD2 siblings showed different clinicopathological features between them. D4Z4 methylation was hypo in the sister, but normal in the brother. The asymptomatic mother showed normal D4Z4 methylation plus same SMCHD1 mutation. Abstract: Facioscapulohumeral muscular dystrophy (FSHD) 2 is caused by a combination of heterozygous structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) mutation plus DNA hypomethylation on D4Z4. Here we report two Japanese FSHD2 siblings (brother and sister) with a new SMCHD1 nonsense mutation (a heterogeneous c. 1654C > T substitution, leading to a stop codon Arg552 ∗ ). They showed the typical phenotype of FSHD2 such as asymmetric muscle weakness and atrophy in bilateral facial, scapular and humeral muscles, but different clinicopathological features between them. The brother and asymptomatic mother showed normal D4Z4 methylation plus the same SMCHD1 mutation, but the sister showed the SMCHD1 mutation plus D4Z4 hypomethylation, suggesting an interesting correlation of the new SMCHD1 nonsense mutation and D4Z4 hypomethylation.