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A 35-year-old member asked:

What chromosomal mutation results in alagille syndrome?

2 doctor answers3 doctors weighed in
Dr. Payam Mehranpour
Cardiology 23 years experience
Chromosome 20: The syndrome results from microdeletion of the 20p12 gene corresponding to jag1 gene and is inherited in an autosomal dominant pattern.
Dr. David Malpass
Pediatric Cardiology 33 years experience
ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals.

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A 39-year-old member asked:

Which chromosomal mutation occurs in alagille syndrome?

1 doctor answer1 doctor weighed in
Dr. Johanna Fricke
Developmental and Behavioral Pediatrics 50 years experience
Alagille Syndrome is: Caused by an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12. Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested.

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Last updated Jan 3, 2014

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