A wave of deep intronic mutations in X-linked Alport syndrome.

doi:10.1016/j.kint.2023.05.006

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A wave of deep intronic mutations in X-linked Alport syndrome.

Kidney international - 1 Aug 2023

Boisson Marie, Arrondel Christelle, Cagnard Nicolas, Morinière Vincent, Arkoub Zaïna Aït, Saei Hassan, Heidet Laurence, Kachmar Jessica, Hummel Aurélie, Knebelmann Bertrand, Bonnet-Dupeyron Marie-Noëlle, Isidor Bertrand, Izzedine Hassane, Legrand Eric, Couarch Philippe, Gribouval Olivier, Bole-Feysot Christine, Parisot Mélanie, Nitschké Patrick, Antignac Corinne, Dorval Guillaume

Abstract excerpt

X-linked Alport syndrome (XLAS) is an inherited kidney disease caused exclusively by pathogenic variants in the COL4A5 gene. In 10-20% of cases, DNA sequencing of COL4A5 exons or flanking regions cannot identify molecular causes. Here, our objective was to use a transcriptomic approach to identify causative events in a group of 19 patients with XLAS without identified mutation by Alport gene panel sequencing....

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PMID: 37230224
DOI: 10.1016/j.kint.2023.05.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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