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Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability.

HGG advances - 12 Oct 2023

Corradi Zelia, Khan Mubeen, Hitti-Malin Rebekkah, Mishra Ketan, Whelan Laura, Cornelis Stéphanie S, Hoyng Carel B, Kämpjärvi Kati, Klaver Caroline C W, Liskova Petra, Stöhr Heidi, Weber Bernhard H F, Banfi Sandro, Farrar G Jane, Sharon Dror, Zernant Jana, Allikmets Rando, Dhaenens Claire-Marie, Cremers Frans P M

Abstract excerpt

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene. Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the underlying variants remain unknown. Here, we aim to shed further light on the missing heritability of ABCA4-associated retinopathy by analyzing a large cohort of macular dystrophy probands. A total of 858 probands were collected from 26...

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Identifiers

PMID: 37705246
DOI: 10.1016/j.xhgg.2023.100237
PMCID: PMC10534262

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