Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy

Ebrahimzadeh-Vesal, R. and Teymoori, A. and Dourandish, A. M. and Azimi-Nezhad, M. (2018) Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy. Genes and Diseases, 5 (4). pp. 331-334.

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Abstract

Myofibrillar myopathies (MFMs) are rare genetic and slowly progressive neuromuscular disorders. Several pathogenic mutations have been reported in MFM-related genes including DES, CRYAB, MYOT, LDB3 or ZASP, FLNC, BAG3, FHL1 and DNAJB6. Although MFMs is commonly inherited in an autosomal dominant manner, the inheritance pattern and novel mutated genes are not thoroughly elucidated in some cases. Here, we report discovery of a novel nonsense mutation in a 29-year-old Iranian male patient with motor disorders and deformity in his lower limbs. His parents are second cousins. Hereditary Motor Sensory Neuropathy as initial genetic diagnosis was ruled out. Whole exome sequencing using NGS on Illumina HiSeq4000 platform was performed to identify the disease and possible mutated gene(s). Our data analysis identified a homozygous nonsense unreported c.C415T (p.R139X) variant on kyphoscoliosis peptidase (KY) gene (NM178554: exon4). Sanger sequencing of this mutation has been performed for his other related family members. Sequencing and segregation analysis was confirmed the NGS results and autosomal recessive inheritance pattern of the disease. © 2018 Chongqing Medical University

Item Type: Article
Additional Information: Export Date: 16 February 2020 Correspondence Address: Azimi-Nezhad, M.; Department of Medical Genetics, School of Medicine, Mashhad University of Medical SciencesIran; email: aziminm@mums.ac.ir
Uncontrolled Keywords: Kyphoscoliosis peptidase gene Myofibrillar myopathy Next generation sequencing Novel mutation Rare genetic neuromuscular disorders kyphoscoliosis peptidase peptidase unclassified drug adult Article case report clinical article codon gene identification gene mutation genetic variability genotype hereditary motor sensory neuropathy heterozygote homozygote human Iran limb deformity male motor dysfunction myopathy nonsense mediated mRNA decay nonsense mutation Sanger sequencing segregation analysis whole exome sequencing
Subjects: QZ pathology-neoplasms-Genetics
Divisions: Mashhad University of Medical Sciences
Depositing User: lib2 lib2 lib2
Date Deposited: 20 May 2020 08:03
Last Modified: 20 May 2020 08:03
URI: http://eprints.mums.ac.ir/id/eprint/17264

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