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ISSN-2155-9929

Journal of Molecular Biomarkers & Diagnosis
Open Access

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Research Article

Targeted Next-generation Sequencing Reveals a Homozygous Nonsense Mutation in CAPN3 that Causes Limb-girdle Muscular Dystrophy Type 2A First in Vietnam

Emma Tabe Eko Niba1, Van Khanh Tran2, Le Anh Tuan-Pham2, Dung Chi Vu3, Ngoc Khanh Nguyen3, Thinh Huy Tran2, Van Thanh Ta2, Tomoko Lee4, Yasuhiro Takeshima4 and Masafumi Matsuo1*

1Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University, Japan

2Center for Gene and Protein Research, Hanoi Medical University, St. Dongda, Hanoi, Vietnam

3Department of Medical Genetics, Metabolism & Endocrinology and Clinical Research’s Division in Research Institute for Child Health Vietnam, National Hospital of Pediatrics, Dong Da, Hanoi, Vietnam

4Department of Pediatrics, Hyogo College of Medicine, 1-1 Mukogawacho, Nishinomiya, 663-8501, Japan

*Corresponding Author:
Masafumi Matsuo
Department of Medical Rehabilitation
Faculty of Rehabilitation, Kobegakuin University
518 Arise, Ikawadani, Nishi, Kobe 651-2180, Japan
Tel: +81-78-974-6194
Fax: +81-78-974-6194
E-mail: [email protected]

Received Date: July 29, 2014; Accepted Date: September 25, 2014; Published Date: September 27, 2014

Citation: Niba ET, Tran VK, Pham LAT, Vu DC, Nguyen NK, et al. (2014) Targeted Next-generation Sequencing Reveals a Homozygous Nonsense Mutation in CAPN3 that Causes Limb-girdle Muscular Dystrophy Type 2A First in Vietnam. J Mol Biomark Diagn 5:194. doi:10.4172/2155-9929.1000194

Copyright: © 2014 Niba ET, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous entity characterized by progressive wasting of the shoulder and pelvic-girdle muscles. Diagnosing particular types of LGMD is still challenging, especially in developing countries, with targeted next-generation sequencing (NGS) emerging as the most advanced diagnostic tool. Here, a 15-year-old Vietnamese girl with proximal muscle weakness was examined for genetic cause via targeted NGS using the AmpliSeq Inherited Disease Ready-to-Use Panel on the Ion Torrent Personal Genome Machine of the detected nucleotide changes, a mutation in exon 3 of CAPN3 was considered to be the responsible mutation. In the readpile-ups, only T was observed at the 424th nucleotide, while only C was observed in the normal sample. The c.424 C>Ttransition in CAPN3 shifted glutamine to a stop codon at the 142nd amino acid residue (p.Q142X). The homozygous c.424C>T genotype was confirmed via XspI restriction enzyme digestion using polymerase chain reaction-amplified product from the index case encompassing exon 3.The patient was concluded to be autosomal recessive LGMD type 2A. XsaIdigestion of 100 control Vietnamese genomes disclosed one carrier of this mutation. Thus, LGMD type 2Awas first diagnosed in Vietnam, a developing country, via targeted NGS, avoiding invasive muscle biopsy.

 

Abstract

Limb-girdle muscular dystrophy (LGMD) is a genetically heterogeneous entity characterized by progressive wasting of the shoulder and pelvic-girdle muscles. Diagnosing particular types of LGMD is still challenging, especially in developing countries, with targeted next-generation sequencing (NGS) emerging as the most advanced diagnostic tool. Here, a 15-year-old Vietnamese girl with proximal muscle weakness was examined for genetic cause via targeted NGS using the AmpliSeq Inherited Disease Ready-to-Use Panel on the Ion Torrent Personal Genome Machine of the detected nucleotide changes, a mutation in exon 3 of CAPN3 was considered to be the responsible mutation. In the readpile-ups, only T was observed at the 424th nucleotide, while only C was observed in the normal sample. The c.424 C>Ttransition in CAPN3 shifted glutamine to a stop codon at the 142nd amino acid residue (p.Q142X). The homozygous c.424C>T genotype was confirmed via XspI restriction enzyme digestion using polymerase chain reaction-amplified product from the index case encompassing exon 3.The patient was concluded to be autosomal recessive LGMD type 2A. XsaIdigestion of 100 control Vietnamese genomes disclosed one carrier of this mutation. Thus, LGMD type 2Awas first diagnosed in Vietnam, a developing country, via targeted NGS, avoiding invasive muscle biopsy.

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