دورية أكاديمية
A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene
| العنوان: | A case of pseudodominant inheritance of limb-girdle muscular dystrophy caused by mutations in the CAPN3 gene |
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| المؤلفون: | Inna V. Sharkova, Maria V. Bulakh, Liudmila А. Bessonova, Olga A. Shchagina, Elena L. Dadaly |
| المصدر: | Анналы клинической и экспериментальной неврологии, Vol 15, Iss 3, Pp 85-91 (2021) |
| بيانات النشر: | Research Center of Neurology, 2021. |
| سنة النشر: | 2021 |
| المجموعة: | LCC:Neurosciences. Biological psychiatry. Neuropsychiatry |
| مصطلحات موضوعية: | limb-girdle muscular dystrophy, autosomal recessive lgmd, calpainopathy, calpain-3-related muscular dystrophy, capn3 gene, pseudodominant inheritance, case report, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571 |
| الوصف: | Introduction. Limb-girdle muscular dystrophy (LGMD) includes more than 30 forms caused by mutations in genes located on autosomes. The most common form is calpain-3-related LGMD, with autosomal recessive inheritance pattern (OMIM 253600). An autosomal dominant form of LGMD (OMIM 618129) caused by c.643_663del heterozygous mutation in the CAPN3 gene is also supposed to exist. This article describes a family case of LGMD caused by mutations in the CAPN3 gene with pseudodominant inheritance. Materials and methods. Two patients with LGMD were studied: a 59-year-old woman and her 38-year-old daughter. Clinical, genealogical and molecular genetics methods were used: limb girdle muscular dystrophy MPS panel, Sanger sequencing of DNA of the proband, her affected daughter, and six first- and second-degree relatives across four generations. Results. It was found that identical variants of the nucleotide sequence, c.598_612del and c.1746-20CG, identified in the CAPN3 gene of the proband and her daughter, are in the trans position (compound heterozygous state), causing autosomal recessive calpain-3-related LGMD. This is an example of an incredibly rare pseudodominant inheritance of an autosomal recessive disease, established through indirect evidence that the probands husband is a heterozygous carrier of a nucleotide substitution in the CAPN3 gene. Conclusion. It is crucial to examine the marriage partner for heterozygous carrier status of a gene mutation responsible for the disease in family planning and when clarifying the childs prognosis for a patient with an autosomal recessive disease. Considering the existence of a late-onset (after 30 years) LGMD phenotype associated with the CAPN3 gene, differential diagnosis should begin with testing this gene in families with late disease onset. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Russian |
| تدمد: | 2075-5473 2409-2533 |
| العلاقة: | https://annaly-nevrologii.com/journal/pathID/article/viewFile/762/592Test; https://doaj.org/toc/2075-5473Test; https://doaj.org/toc/2409-2533Test |
| DOI: | 10.54101/ACEN.2021.3.10 |
| الوصول الحر: | https://doaj.org/article/eac3f5daff8643a3b8e7de4daae883e1Test |
| رقم الانضمام: | edsdoj.3f5daff8643a3b8e7de4daae883e1 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 20755473 24092533 |
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| DOI: | 10.54101/ACEN.2021.3.10 |