Alagille syndrome


What gene change/mutation causes Alagille syndrome?

There are two genes known to be involved in Alagille syndrome. Changes/mutations in the gene JAG1 cause about 94-96% of Alagille syndrome. The type of changes in the gene can range from "spelling mistakes" to missing or added gene pieces. About 89% of Alagille syndrome is caused by spelling mistakes in JAG1. About 5-7% of Alagille syndrome is caused by big extra or missing pieces of JAG1. Spelling mistakes in the gene NOTCH2 cause about 1-2% of Alagille syndrome. The cause of the remaining 2-5% of Alagille syndrome is not yet known.

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