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AASLD
Alagille Syndrome

Adults with suspected ALGS warrant further genetic evaluation

Posted on December 29, 2021

Clinical manifestation underlined by current diagnostic criteria in most adults with Alagille syndrome (ALGS) are atypical. Those who do not reach the criteria but are highly suspicious of AGS need further evaluation and particularly genetic detection, according to a presentation at The Liver Meeting 2021.

ALGS is an autosomal dominant, multisystem disorder caused by genetic mutations including JAG1 and NOTCH2 genes. The study included 8 adults (3 female and 5 males) diagnosed as ALGS in one hospital from June 2016 to June 2019. Median age of patients was 24.5 years at diagnosis. Clinical data, biochemical results, imaging findings, liver histopathological features, and genetic tests were analyzed. Results showed clinical manifestations including adult onset (62.5%), cholestasis (50%), butterfly vertebrae (62.5%), systolic murmurs (12.5%), typical facies (12.5%), and posterior embryotoxon and renal abnormalities (0/8). Genetic sequencing revealed all of the patients had gene mutations including 4 on JAG1 and 4 on NOTCH2 genes. The patterns of mutation included 6 cases with substitution, 1 with deletion, and 1 with splicing. Four mutations were novel mutations, including 1 JAG1 mutation and 3 NOTCH2 mutations.

Reference
Gan W, et al. Alagille syndrome in adults: clinical or genetic diagnosis? Presented at American Association for the Study of Liver Diseases (AASLD) The Liver Meeting (TLM) 2021.

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