A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

作者：Chen, Zuzhi; Ren, Zhixia; Mei, Wenli; Ma, Qiankun; Shi, Yingying; Zhang, Yuanxing; Li, Shujian; Xiang, Li; Zhang, Jiewen^*

来源：BMC Medical Genetics, 2017, 18(1): 63.

DOI：10.1186/s12881-017-0424-5

• Emery-Dreifuss muscular dystrophy
• SYNE1 gene
• Gly2304Arg mutation
• Clinical manifestations

Background: In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities.
Methods: Clinical examination and neuroimaging of the captured target region and high-throughput sequencing were performed in a family of four generations. Muscle changes were evaluated using magnetic resonance imaging and muscle biopsies.
Results: Target region capture sequencing yielded a novel missense mutation in codon 2304 (G2304R), which is a heterozygous A to G point mutation at position 6910 (c.6910A > G) in exon 46 of SYNE1 leading to a glycine-to-arginine substitution (p.Gly2304Arg). The results were also identified by Sanger sequencing in three family members but not in the other three unaffected family members and 100 control subjects.
Conclusions: This mutation is probably pathogenic and is the first of its kind reported in a familial Emery-Dreifuss muscular dystrophy-like.

• 出版日期2017-6-5
• 单位郑州大学