New variant of PRDM16 gene nucleotide sequence in a family with various phenotypic manifestations of the non-compacted myocardium
Autor: | A. I. Ershova, A. V. Petukhova, A. V. Kiseleva, V. S. Yudin, D. A. Kashtanova, V.V Makarov, M. S. Kharlap, P. S. Pilyus, L. A. Gandaeva, V. M. Mikova, Mikhail G. Divashuk, E. D. Zotova, S. A. Boytsov, V. E. Sinitsyn, A. A. Bukaeva, A. I. Akinshina, A. N. Meshkov, O. V. Kulikova, E.. N. Basargina, R. P. Myasnikov, S. N. Koretsky, E. A. Mershina, O. M. Drapkina, E. A. Snigir |
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Jazyk: | ruština |
Rok vydání: | 2021 |
Předmět: |
0301 basic medicine
Genetics medicine.medical_specialty phenotype Disease sequencing 030204 cardiovascular system & hematology Biology non-compacted myocardium Phenotype Frameshift mutation 03 medical and health sciences Exon 030104 developmental biology 0302 clinical medicine prdm16 Molecular genetics RC666-701 medicine Left ventricular noncompaction Diseases of the circulatory (Cardiovascular) system Cardiology and Cardiovascular Medicine Gene Transcription factor |
Zdroj: | Российский кардиологический журнал, Vol 26, Iss 1S (2021) |
ISSN: | 2618-7620 1560-4071 |
Popis: | The article presents the examination of three generations of a family with diagnosed left ventricular noncompaction (LVNC) and various phenotypic manifestations of the disease (isolated, hypertrophic and dilated type of LVNC). As a result of a molecular genetics tests, a previously undescribed single nucleotide deletion in the PRDM16 gene was revealed in all family members with the LVNC phenotype, leading to a frameshift mutation in exon 9 and the formation of a premature termination codon. This gene encodes a transcription factor responsible for after-birth suppressing the expression of genes involved in prenatal and postnatal development. Despite the presence of previous studies showing the relationship of the PRDM16 gene with LVNC development, currently there are insufficient data to prove the pathogenicity of the identified variant. However, the segregation of the symptomatic variant in three generations supports the association of the identified variant with LVNC. With the accumulation of information about changes in PRDM16 in patients with cardiomyopathies, it is possible to change the status of this gene and clarify its contribution to primary heart diseases. |
Databáze: | OpenAIRE |
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