contiguous gene syndrome

Home » Classic Medicine » Syndromes » contiguous gene syndrome
contiguous gene syndrome2016-11-25T13:11:08+00:00

contiguous gene syndrome 


A term of art for a hereditary condition caused by the deletion of part of a chromosome bearing multiple genes.

As an example, hypotonia-cystinuria syndrome (OMIM:606407) is caused by a deletion of SLC3A1–which results in isolated cystinuria type I, and PREPL. Deletion of other genes–e.g., PPM1B C2ORF34, and possibly others, result in a more severe and slightly different phenotypic expressions of contiguous gene syndromes.

Synonym Adjacent gene syndrome 


Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.