A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies
Abstract Limb–girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in an autosomal recessive manner. Since the spectrum o...
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BMC
2025-05-01
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| Series: | Human Genomics |
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| Online Access: | https://doi.org/10.1186/s40246-025-00771-4 |
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| author | Sheyda Khalilian Mohadeseh Fathi Raheleh Tangestani Pegah Larki Arezou Sayad Soudeh Ghafouri-Fard Mohammad Miryounesi |
| author_facet | Sheyda Khalilian Mohadeseh Fathi Raheleh Tangestani Pegah Larki Arezou Sayad Soudeh Ghafouri-Fard Mohammad Miryounesi |
| author_sort | Sheyda Khalilian |
| collection | DOAJ |
| description | Abstract Limb–girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in an autosomal recessive manner. Since the spectrum of genetic variants that cause this disorder is quite broad, next-generation sequencing techniques are the best diagnostic tools for LGMD. In this study, we provide an overview of mutation spectrum of LGMD-related genes in the Iranian patients using whole exome sequencing. Notably, CAPN3 and LAMA2 genes were the genes encompassing the highest frequencies of pathogenic or likely pathogenic variants in this cohort. Pathogenic and likely pathogenic variants were identified in CAPN3 gene in total of 10 cases out of 48 cases tested (20%). In addition, different variants in each of POMGNT1 and TTN genes were detected in five and four patients, respectively. Three patients had DYSF variants (6%). While the inheritance of the majority of cases was supposed to be in an autosomal recessive manner, in three cases, the disease inheritance was best explained by the dominant type (c.947 C > T variant in the DNAJB6, c.746G > A variant in the LMNA, and c.1417G > A variant in the TNPO3). The current study broadens the spectrum of LGMD-related mutations among Iranian patients and facilitates genetic counseling in the affected families. |
| format | Article |
| id | doaj-art-3d1966caa99d44ffa53e2f10a3361cb4 |
| institution | OA Journals |
| issn | 1479-7364 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
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| series | Human Genomics |
| spelling | doaj-art-3d1966caa99d44ffa53e2f10a3361cb42025-08-20T01:51:30ZengBMCHuman Genomics1479-73642025-05-0119111210.1186/s40246-025-00771-4A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophiesSheyda Khalilian0Mohadeseh Fathi1Raheleh Tangestani2Pegah Larki3Arezou Sayad4Soudeh Ghafouri-Fard5Mohammad Miryounesi6Student Research Committee, School of Medicine, Shahid Beheshti University of Medical SciencesStudent Research Committee, School of Medicine, Shahid Beheshti University of Medical SciencesGenomic Research Center, Shahid Beheshti University of Medical SciencesGenomic Research Center, Shahid Beheshti University of Medical SciencesDepartment of Medical Genetics, Shahid Beheshti University of Medical SciencesDepartment of Medical Genetics, Shahid Beheshti University of Medical SciencesDepartment of Medical Genetics, Shahid Beheshti University of Medical SciencesAbstract Limb–girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in an autosomal recessive manner. Since the spectrum of genetic variants that cause this disorder is quite broad, next-generation sequencing techniques are the best diagnostic tools for LGMD. In this study, we provide an overview of mutation spectrum of LGMD-related genes in the Iranian patients using whole exome sequencing. Notably, CAPN3 and LAMA2 genes were the genes encompassing the highest frequencies of pathogenic or likely pathogenic variants in this cohort. Pathogenic and likely pathogenic variants were identified in CAPN3 gene in total of 10 cases out of 48 cases tested (20%). In addition, different variants in each of POMGNT1 and TTN genes were detected in five and four patients, respectively. Three patients had DYSF variants (6%). While the inheritance of the majority of cases was supposed to be in an autosomal recessive manner, in three cases, the disease inheritance was best explained by the dominant type (c.947 C > T variant in the DNAJB6, c.746G > A variant in the LMNA, and c.1417G > A variant in the TNPO3). The current study broadens the spectrum of LGMD-related mutations among Iranian patients and facilitates genetic counseling in the affected families.https://doi.org/10.1186/s40246-025-00771-4Limb-girdle muscular dystrophyGeneticsCAPN3LAMA2 |
| spellingShingle | Sheyda Khalilian Mohadeseh Fathi Raheleh Tangestani Pegah Larki Arezou Sayad Soudeh Ghafouri-Fard Mohammad Miryounesi A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies Human Genomics Limb-girdle muscular dystrophy Genetics CAPN3 LAMA2 |
| title | A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies |
| title_full | A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies |
| title_fullStr | A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies |
| title_full_unstemmed | A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies |
| title_short | A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies |
| title_sort | survey on mutation spectrum in iranian patients with limb girdle muscular dystrophies |
| topic | Limb-girdle muscular dystrophy Genetics CAPN3 LAMA2 |
| url | https://doi.org/10.1186/s40246-025-00771-4 |
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