Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

doi:10.1038/s10038-026-01462-1

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Article

Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.

Journal of human genetics - 1 Jul 2026

Gusarova Elena A, Degtyareva Anna V, Lavrova Alla E, Strokova Tatiana V, Semenova Natalia A, Nuzhnaya Ekaterina Y, Gautier Marina S, Filippova Elena A, Shubina Ekaterina S, Isaeva Medan K, Annenkova Eleonora A, Bezverbnaya Victoria Y, Nazarenko Yana D, Konovalova Ekaterina Y, Borisova Elena Y, Marakhonov Andrey V, Zakharova Ekaterina Y

Abstract excerpt

Alagille syndrome (ALGS) is an inherited multisystem disorder with a broad phenotypic spectrum and no apparent genotype-phenotype correlation. This study aimed to present the clinical and genetic characteristics of 115 patients diagnosed with ALGS in the Russian Federation between 2010 and 2023. The most common pathogenic variants identified in the study cohort were c.2122_2125delCAGT p.(Gln708Valfs*34) and...

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Identifiers

PMID: 41688614
DOI: 10.1038/s10038-026-01462-1

Genes

JAG1
NOTCH2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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