Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy
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 man...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
KeAi Communications Co., Ltd.
2018-12-01
|
| Series: | Genes and Diseases |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352304218301119 |
| _version_ | 1797714344496070656 |
|---|---|
| author | Reza Ebrahimzadeh-Vesal Atieh Teymoori Ali Mohammad Dourandish Mohsen Azimi-Nezhad |
| author_facet | Reza Ebrahimzadeh-Vesal Atieh Teymoori Ali Mohammad Dourandish Mohsen Azimi-Nezhad |
| author_sort | Reza Ebrahimzadeh-Vesal |
| collection | DOAJ |
| description | 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 (NM_178554: 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. Keywords: Kyphoscoliosis peptidase gene, Myofibrillar myopathy, Next generation sequencing, Novel mutation, Rare genetic neuromuscular disorders |
| first_indexed | 2024-03-12T07:50:31Z |
| format | Article |
| id | doaj.art-21c0329efd414819830a075e91f1bbd1 |
| institution | Directory Open Access Journal |
| issn | 2352-3042 |
| language | English |
| last_indexed | 2024-03-12T07:50:31Z |
| publishDate | 2018-12-01 |
| publisher | KeAi Communications Co., Ltd. |
| record_format | Article |
| series | Genes and Diseases |
| spelling | doaj.art-21c0329efd414819830a075e91f1bbd12023-09-02T20:38:29ZengKeAi Communications Co., Ltd.Genes and Diseases2352-30422018-12-0154331334Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathyReza Ebrahimzadeh-Vesal0Atieh Teymoori1Ali Mohammad Dourandish2Mohsen Azimi-Nezhad3Department of Basic Medical Sciences, Neyshabur University of Medical Sciences, Neyshabur, IranDepartment of Medical Genetics, School of Medicine, Golestan University of Medical Sciences, Gorgan, IranMedical Genetics Counseling Center, Neyshabur, IranDepartment of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Corresponding author.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 (NM_178554: 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. Keywords: Kyphoscoliosis peptidase gene, Myofibrillar myopathy, Next generation sequencing, Novel mutation, Rare genetic neuromuscular disordershttp://www.sciencedirect.com/science/article/pii/S2352304218301119 |
| spellingShingle | Reza Ebrahimzadeh-Vesal Atieh Teymoori Ali Mohammad Dourandish Mohsen Azimi-Nezhad Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy Genes and Diseases |
| title | Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy |
| title_full | Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy |
| title_fullStr | Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy |
| title_full_unstemmed | Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy |
| title_short | Identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an Iranian patient with myofibrillar myopathy |
| title_sort | identification of a novel nonsense mutation in kyphoscoliosis peptidase gene in an iranian patient with myofibrillar myopathy |
| url | http://www.sciencedirect.com/science/article/pii/S2352304218301119 |
| work_keys_str_mv | AT rezaebrahimzadehvesal identificationofanovelnonsensemutationinkyphoscoliosispeptidasegeneinaniranianpatientwithmyofibrillarmyopathy AT atiehteymoori identificationofanovelnonsensemutationinkyphoscoliosispeptidasegeneinaniranianpatientwithmyofibrillarmyopathy AT alimohammaddourandish identificationofanovelnonsensemutationinkyphoscoliosispeptidasegeneinaniranianpatientwithmyofibrillarmyopathy AT mohsenaziminezhad identificationofanovelnonsensemutationinkyphoscoliosispeptidasegeneinaniranianpatientwithmyofibrillarmyopathy |