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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort by Perrault, Isabelle (author);Hanein, Sylvain (author);Gérard, Xavier (author);Mounguengue, Nelson (author);Bouyakoub, Ryme (author);Zarhrate, Mohammed (author);Fourrage, Cécile (author);Jabot-Hanin, Fabienne (author);Bocquet, Béatrice (author);Meunier, Isabelle (author);Zanlonghi, Xavier (author);Kaplan, Josseline (author);Rozet, Jean-Michel (author) is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort about?

Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance in clinical decision-making and patient care since it can provide ocular and extraocular prognostics and identify patients eligible to develop gene-specific therapies. Routine high-throughput molecular testing in LCA yields 70%-80% of genetic diagnosis. In this study, we aimed to investigate the non-coding regions of one non-syndromic LCA gene, RPGRIP1, in a series of six families displaying one single disease allele after a gene-panel screening of 722 LCA families which identified 26 biallelic RPGRIP1 families. Using trio-based high-throughput whole locus sequencing (WLS) for second disease alleles, we identified a founder deep intronic mutation (NM\_020366.3:c.1468-128T>G) in 3/6 families. We employed Sanger sequencing to search for the pathologic variant in unresolved LCA cases (106/722) and identified three additional families (two homozygous and one compound heterozygous with the NM\_020366.3:c.930+77A>G deep intronic change). This makes the c.1468-128T>G the most frequent R

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Author

Perrault, Isabelle (author);Hanein, Sylvain (author);Gérard, Xavier (author);Mounguengue, Nelson (author);Bouyakoub, Ryme (author);Zarhrate, Mohammed (author);Fourrage, Cécile (author);Jabot-Hanin, Fabienne (author);Bocquet, Béatrice (author);Meunier, Isabelle (author);Zanlonghi, Xavier (author);Kaplan, Josseline (author);Rozet, Jean-Michel (author)

Publisher

MDPI AG

Published

2021

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)