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Интеллектуальная Система Тематического Исследования НАукометрических данных |
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Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesisстатья
Информация о цитировании статьи получена из
Web of Science,
Scopus
Статья опубликована в журнале из списка Web of Science и/или Scopus
Дата последнего поиска статьи во внешних источниках: 24 сентября 2020 г.
- Авторы: Marakhonov Andrey V., Voskresenskaya Anna A., Ballesta Maria Jose, Konovalov Fedor A., Vasilyeva Tatyana A., Blanco-Kelly Fiona, Pozdeyeva Nadezhda A., Kadyshev Vitaly V., López-González Vanesa, Guillen Encarna, Ayuso Carmen, Zinchenko Rena A., Corton Marta
- Журнал: Orphanet Journal of Rare Diseases
- Том: 15
- Год издания: 2020
- Издательство: BioMed Central
- Местоположение издательства: London
- Номер статьи: 207
- DOI: 10.1186/s13023-020-01484-8
- Аннотация: BackgroundMutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes.ResultsIn this study, we performed clinical examination and subsequent genetic analysis in two unrelated sporadic cases of different geographical origins presenting with a complex phenotype of ocular malformation. Both cases manifested bilateral microphthalmia and severe anterior segment dysgenesis, primarily characterized by congenital aphakia, microcornea, and iris hypoplasia/aniridia. NGS-based analysis revealed two novel single nucleotide variants occurring de novo and affecting the translation termination codon of the CRYAA gene, c.520T > C and c.521A > C. Both variants are predicted to elongate the C-terminal protein domain by one-third of the original length.ConclusionsOur report not only expands the mutational spectrum of CRYAA but also identifies the genetic cause of the unusual ocular phenotype described in this report.
- Добавил в систему: Марахонов Андрей Владимирович