A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome

Chen, Xue-Ping; Zhang, Yang-Wei; Zhang, Shu-Shan; Chen, Qin; Burgunder, Jean-Marc; Wu, Shu-Hui; Yang, Yuan; Luo, Zu-Ming; Shang, Hui-Fang (2008). A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. Movement disorders, 23(10), pp. 1472-5. Hoboken, N.J.: Wiley-Blackwell 10.1002/mds.22008

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In a Chinese myoclonus-dystonia syndrome (MDS) family presented with a phenotype including a typical MDS, cervical dystonia, and writer's cramp, genetic analyses revealed a novel 662 + 1insG heterozygous mutation in exon 5 in the epsilon-sarcoglycan (SGCE) gene, leading to a frameshift with a down stream stop codon. Low SGCE mRNA levels were detected in the mutation carriers by real-time PCR, suggesting that the nonsense mutation might interfere with the stability of SGCE mRNA. This is the first report on Chinese with a SGCE mutation leading to MDS. Our data support the fact that same mutation of SGCE gene can lead to a varied phenotype, even in the same family.

Item Type:	Journal Article (Further Contribution)
Division/Institute:	04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology
UniBE Contributor:	Burgunder, Jean-Marc
ISSN:	0885-3185
ISBN:	18581468
Publisher:	Wiley-Blackwell
Language:	English
Submitter:	Factscience Import
Date Deposited:	04 Oct 2013 15:05
Last Modified:	05 Dec 2022 14:20
Publisher DOI:	10.1002/mds.22008
PubMed ID:	18581468
Web of Science ID:	000258422300020
URI:	https://boris.unibe.ch/id/eprint/28377 (FactScience: 120473)