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Alagille Syndrome

Genetic testing may be beneficial for adults suspected of having ALGS

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The current diagnostic criteria for adults with Alagille syndrome (ALGS) do not always match the clinical manifestations, highlighting the need for further evaluation and genetic testing, according to a study.

In this case series, data from 8 adults (median age of 24.5 years) diagnosed with ALGS were analyzed.

Clinical manifestations included:
-Adult-onset in 62.5%
-Cholestasis in 50%
-Butterfly vertebrae in 62.5%
-Systolic murmurs in 12.5%

Posterior embryotoxon and renal abnormalities were not found in any cases.

All patients were found to have genetic mutations, 4 patients in the JAG1 gene and 4 patients in the NOTCH2 gene. Six were substitution mutations, 1 was a deletion mutation, and 1 was a splicing mutation. One JAG1 mutation and two NOTCH2 mutations were reported for the first time in the study.

Reference
Li J, Wu H, Chen S, et al. Clinical and Genetic Characteristics of Alagille Syndrome in Adults. J Clin Transl Hepatol. 2023;11(1):156-162. doi: 10.14218/JCTH.2021.00313. Epub 2022 Mar 17. PMID: 36406308; PMCID: PMC9647109.

 

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