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Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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The genetic locus for Alagille syndrome (ALGS) is at chromosome 20p12.

The mode of inheritance is autosomal dominant with variable penetrance.

There are often microdeletions of chromosome 20.

ALGS is caused by mutations in one of two genes:

  • JAG1 and NOTCH2. It was initially described as a hepatic disease, but molecular testing has shown that individuals with ALGS and JAG1 or NOTCH2 mutations may present without overt liver disease (1)

Reference:

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