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<p>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&gt;A. Two previously undescribed <i>JAG1</i> variants, c.247C&gt;T p.(Gln83Ter) and c.1188del p.(Phe396Leufs*16), were assessed in silico as likely pathogenic. Functional analysis of four <i>JAG1</i> variants (c.439+1G&gt;A, c.1120+5G&gt;A, c.886+3A&gt;G, and c.1156G&gt;A) and one <i>NOTCH2</i> variant (c.1264+5G&gt;A) using a minigene splicing assay classified them as pathogenic splice-site variants.</p>

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

  • 期刊论文

  • 发表日期：

    2026年2月13日

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

摘要

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.