Population frequency of LAMA2 gene mutations among residents of the Russian Federation by medical technology «Detection system in one test tube for frequent mutations at congenital muscular dystrophies»
https://doi.org/10.1234/XXXX-XXXX-2016-3-30-34
Abstract
Congenital Muscular Dystrophies (CMD) is the group of the neuromuscular diseases which are characterized by heavy hypotonia, muscular weakness and contractures. Incidence of CMD is estimated as 0,8 on 100 000, and the contribution of congenital muscular dystrophy, merozin-negative (CMD1A) makes in 30-40% of cases of CMD in the European countries. However, the exact frequency of CMD1A and frequency of a carriage of this disease are at the moment not determined. Frequent mutations of LAMA2 gene are revealed that has allowed to create effective system of molecular and genetic diagnostics CMD1A in the burdened families. The medical technology «Detectionsystem in one test tube for frequent mutations at congenital muscular dystrophies» is introduced in practice. The assessment of population frequency of six mutations in LAMA2 gene among residents of the Russian Federation and settlement frequency of CMD1A disease which has made 1 on 83 000 newborns is for the first time carried out.
About the Authors
T. B. Milovidova
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
O. A. Shchagina
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
A. V. Polyakov
Federal State Budgetary Institution «Research Centre for Medical Genetics»
Russian Federation
Russian Federation
References
1. Sparks S, Quijano-Roy S, Harper A, et al. Congenital Muscular Dystrophy Overview. 2001 Jan 22 [Updated 2012 Aug 23]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. Gene Reviews® [Internet]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1291/
2. Mendell JR, Bouе DR, Martin PT. The Congenital Muscular Dystrophies: Recent Advances and Molecular Insights. Pediatric and developmental pathology: the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2006;9(6):427-443.
3. Дадали Е.Л., Руденская Г.Е., Щагина О.А. и др. Мерозин-дефицитная врожденная мышечная дистрофия. Журнал неврологии и психиатрии им. С.С. Корсакова. 2010;110(3):83-89.
4. Mostacciuolo ML, Miorin M, Martinello F, et al. Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy. Human Genetic. 1996 Mar; 97(3):277-279.
5. Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscular Disorder. 2000;10:1-9.
6. Allamand V, Guicheney P. Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin). Eur J Hum Genet. 2002; 10:91-4.
7. Дадали Е.Л., Шаркова И.В., Адян Т.А. и др. Клинико-генетические характеристики больных с врожденной мышечной дистрофией, обусловленной мутациями в гене LMNA. Журнал неврологии и психиатрии им. С.С. Корсакова. 2016;116(1):70-75.
8. Миловидова Т.Б., Дадали Е.Л., Руденская Г.Е., Поляков А.В. Молекулярно-генетическая диагностика врожденной мышечной дистрофии типа 1А (мерозин-негативной) в России. Тезисы VII Съезда Российского общества медицинских генетиков, Санкт-Петербург, 19-23 мая 2015 г., Медицинская генетика, 2015;14(3): 42
Review
For citations:
Milovidova T.B., Shchagina O.A., Polyakov A.V. Population frequency of LAMA2 gene mutations among residents of the Russian Federation by medical technology «Detection system in one test tube for frequent mutations at congenital muscular dystrophies». Medical Genetics. 2016;15(3):30-34. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2016-3-30-34
Views:
615
Email this article 