Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report
Abstract Introduction Ullrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered that different gene mutations are responsible for UCMD clinical manifestation. Case report In this study, we carried out whole exome sequencing...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2022-12-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-022-00372-z |
| _version_ | 1797973579710595072 |
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| author | Elaheh Nekouei Elmira Shokrolahi Yancheshmeh Javad Mohammadi-Asl Zafar Maasoumi Moghaddam |
| author_facet | Elaheh Nekouei Elmira Shokrolahi Yancheshmeh Javad Mohammadi-Asl Zafar Maasoumi Moghaddam |
| author_sort | Elaheh Nekouei |
| collection | DOAJ |
| description | Abstract Introduction Ullrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered that different gene mutations are responsible for UCMD clinical manifestation. Case report In this study, we carried out whole exome sequencing (WES) to recognize probable gene defects in an Iranian boy with UCMD. We found a novel disease-causing COL6α1 gene mutation (c.2551_2562del; p.Phe851_Arg854del), located in exon35 (NM_001848.3), causing a deletion mutation that has eliminated 12 bp. The WES-identified variant that was confirmed by Sanger sequencing for the patient and his consanguineous parents. Here, we report the clinical manifestations of 4-year-old Iranian patient who presented with muscle weakness since birth and proved compound homozygous mutation of the COL6A1 gene. Conclusion Our findings established that this detected COL6α1 mutation is the pathogenic variant for UCMD. This is the first genetic study indicating that c.2551_2562 mutation in homozygous state in COL6α1 gene is responsible for the UCMD phenotype. |
| first_indexed | 2024-04-11T04:06:30Z |
| format | Article |
| id | doaj.art-9ea5f510e6a2451cb4c0efce70df56d2 |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-04-11T04:06:30Z |
| publishDate | 2022-12-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-9ea5f510e6a2451cb4c0efce70df56d22023-01-01T12:20:56ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412022-12-012311510.1186/s43042-022-00372-zExome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case reportElaheh Nekouei0Elmira Shokrolahi Yancheshmeh1Javad Mohammadi-Asl2Zafar Maasoumi Moghaddam3Department of Biotechnology, Ahvaz Branch, Islamic Azad UniversityDepartment of Biotechnology, Ahvaz Branch, Islamic Azad UniversityCancer, Petroleum and Environmental Pollutants Research Center, Ahvaz Jundishapur University of Medical SciencesClinical Research Development Unit, Beheshti Hospital, Yasuj University of Medical SciencesAbstract Introduction Ullrich congenital muscular dystrophy (UCMD) is a severe form of inherited muscle weakness at birth. Recent genetic studies discovered that different gene mutations are responsible for UCMD clinical manifestation. Case report In this study, we carried out whole exome sequencing (WES) to recognize probable gene defects in an Iranian boy with UCMD. We found a novel disease-causing COL6α1 gene mutation (c.2551_2562del; p.Phe851_Arg854del), located in exon35 (NM_001848.3), causing a deletion mutation that has eliminated 12 bp. The WES-identified variant that was confirmed by Sanger sequencing for the patient and his consanguineous parents. Here, we report the clinical manifestations of 4-year-old Iranian patient who presented with muscle weakness since birth and proved compound homozygous mutation of the COL6A1 gene. Conclusion Our findings established that this detected COL6α1 mutation is the pathogenic variant for UCMD. This is the first genetic study indicating that c.2551_2562 mutation in homozygous state in COL6α1 gene is responsible for the UCMD phenotype.https://doi.org/10.1186/s43042-022-00372-zCol6α1 geneUllrich congenital muscular dystrophyMutation |
| spellingShingle | Elaheh Nekouei Elmira Shokrolahi Yancheshmeh Javad Mohammadi-Asl Zafar Maasoumi Moghaddam Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report Egyptian Journal of Medical Human Genetics Col6α1 gene Ullrich congenital muscular dystrophy Mutation |
| title | Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report |
| title_full | Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report |
| title_fullStr | Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report |
| title_full_unstemmed | Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report |
| title_short | Exome sequencing identified a novel Col6α1 mutation in an Iranian patient with Ullrich congenital muscular dystrophy: a case report |
| title_sort | exome sequencing identified a novel col6α1 mutation in an iranian patient with ullrich congenital muscular dystrophy a case report |
| topic | Col6α1 gene Ullrich congenital muscular dystrophy Mutation |
| url | https://doi.org/10.1186/s43042-022-00372-z |
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