Journal of human genetics · 2026
Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene.
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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
Аннотация
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 c.439+1G>A. Two previously undescribed JAG1 variants, c.247C>T p.(Gln83Ter) and c.1188del p.(Phe396Leufs*16), were assessed in silico as likely pathogenic. Functional analysis of four JAG1 variants (c.439+1G>A, c.1120+5G>A, c.886+3A>G, and c.1156G>A) and one NOTCH2 variant (c.1264+5G>A) using a minigene splicing assay classified them as pathogenic splice-site variants.