Story perspectives

New Genetic Variants Uncovered in Alagille Syndrome Patients

2/13/2026

Summary

Story summary

A study in the Russian Federation analyzed 115 patients diagnosed with Alagille syndrome from 2010 to 2023, identifying pathogenic variants in JAG1, including c.2122_2125delCAGT p.(Gln708Valfs*34) and c.439+1G>A.
Two newly identified JAG1 variants, c.247C>T p.(Gln83Ter) and c.1188del p.(Phe396Leufs*16), were classified as likely pathogenic.
Functional analyses of four JAG1 variants and one NOTCH2 variant confirmed them as pathogenic splice-site variants.
The findings advance understanding of ALGS genetics in the studied population.

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Story summary

A study in the Russian Federation analyzed 115 patients diagnosed with Alagille syndrome from 2010 to 2023, identifying pathogenic variants in JAG1, including c.2122_2125delCAGT p.(Gln708Valfs*34) and c.439+1G>A.
Two newly identified JAG1 variants, c.247C>T p.(Gln83Ter) and c.1188del p.(Phe396Leufs*16), were classified as likely pathogenic.
Functional analyses of four JAG1 variants and one NOTCH2 variant confirmed them as pathogenic splice-site variants.
The findings advance understanding of ALGS genetics in the studied population.