Identification of a mutation in a Vietnamese family with Emery-Dreifuss Muscular Dystrophy using whole exome sequencing

Nguyen Thuy Duong, Dinh Huong Thao, Nguyen Thi Thao, Pham Van Anh, Miyake Noriko, Matsumoto Naomichi, Nong Van Hai
Author affiliations

Authors

  • Nguyen Thuy Duong Institute of Genome Research
  • Dinh Huong Thao Institute of Genome Research
  • Nguyen Thi Thao Vietnam National Children’s Hospital, Vietnam
  • Pham Van Anh Vietnam National Children’s Hospital, Vietnam
  • Miyake Noriko Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan. Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan
  • Matsumoto Naomichi Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan
  • Nong Van Hai Institute of Genome Research

DOI:

https://doi.org/10.15625/2615-9023/16742

Keywords:

EDMD, LMNA, Sanger, WES, Vietnamese.

Abstract

Emery-Dreifuss muscular dystrophy (EDMD) is a degenerative neuromuscular disease associated with at least nine genes, including EMD, LMNA, FHL1, TMEM43, SUN1, SUN2, TTN, SYNE1, and SYNE2. Herein, we identified a heterozygous missense LMNA mutation (NM_170707.4: c.1357C>T,p.R453W) in three members of a Vietnamese family using whole-exome sequencing (WES), in which the proband was an 11-year-old girl presenting humeroperoneal muscle weaknesses and generalized contracture. Her father and one other relative also exhibited multiple signs of muscular atrophy and contracture. Sanger sequencing in the extended family verified the causative nature of this mutation, establishing a confirmed diagnosis of autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2). The clinical presentations of each patient in this study are different from each other, demonstrating the intrafamilial phenotypic variability of this mutation. Early identification of the underlying genetic course of the disease by sequencing, combined with clinical findings provides solid evidence to diagnosis process, genetic counseling and management strategy.

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Published

30-03-2022

How to Cite

Thuy Duong, N., Huong Thao, D., Thi Thao, N., Van Anh, P., Noriko, M., Naomichi, M., & Van Hai, N. (2022). Identification of a mutation in a Vietnamese family with Emery-Dreifuss Muscular Dystrophy using whole exome sequencing. Academia Journal of Biology, 44(1), 33–41. https://doi.org/10.15625/2615-9023/16742

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