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Article

Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene.

European journal of human genetics : EJHG - 1 Jun 2021

Barashkov Nikolay A, Konovalov Fedor A, Borisova Tuyara V, Teryutin Fedor M, Solovyev Aisen V, Pshennikova Vera G, Sapojnikova Nadejda V, Vychuzhina Lyubov S, Romanov Georgii P, Gotovtsev Nyurgun N, Morozov Igor V, Bondar Alexander A, Platonov Fedor A, Burtseva Tatiana E, Khusnutdinova Elza K, Posukh Olga L, Fedorova Sardana A

Abstract excerpt

Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing (Illumina NextSeq 500) in one Yakut family with three affected siblings whose parents had preserved vision. We have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33767456
DOI: 10.1038/s41431-021-00833-w
PMCID: PMC8187664

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