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Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population.
Kadyshev, Vitaly V; Alekseeva, Ekaterina A; Strelnikov, Vladimir V; Stepanova, Anna A; Polyakov, Alexander V; Marakhonov, Andrey V; Kutsev, Sergey I; Zinchenko, Rena A.
Afiliación
  • Kadyshev VV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Alekseeva EA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Strelnikov VV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Stepanova AA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Polyakov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia.
  • Zinchenko RA; Research Centre for Medical Genetics, 115522 Moscow, Russia.
Int J Mol Sci ; 24(22)2023 Nov 12.
Article en En | MEDLINE | ID: mdl-38003421
Inherited retinal diseases (IRDs) constitute a prevalent group of inherited ocular disorders characterized by marked genetic diversity alongside moderate clinical variability. Among these, ABCA4-related eye pathology stands as a prominent form affecting the retina. In this study, we conducted an in-depth analysis of 96 patients harboring ABCA4 variants in the European part of Russia. Notably, the complex allele c.[1622T>C;3113C>T] (p.Leu541Pro;Ala1038Val, or L541P;A1038V) and the variant c.5882G>A (p.Gly1961Glu or G1961E) emerged as primary contributors to this ocular pathology within this population. Additionally, we elucidated distinct disease progression characteristics associated with the G1961E variant. Furthermore, our investigation revealed that patients with loss-of-function variants in ABCA4 were more inclined to develop phenotypes distinct from Stargardt disease. These findings provide crucial insights into the genetic and clinical landscape of ABCA4-related retinal dystrophies in this specific population.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Distrofias Retinianas Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Transportadoras de Casetes de Unión a ATP / Distrofias Retinianas Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza