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What type of mutation causes alagille syndrome?

3 doctors weighed in
Dr. David Chandler
Ophthalmology
2 doctors agree

In brief: Autosomal dominant

Alagille syndrome has an autsomal dominant genetic inheritance pattern.
It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs.

In brief: Autosomal dominant

Alagille syndrome has an autsomal dominant genetic inheritance pattern.
It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs.
Dr. David Chandler
Dr. David Chandler
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