Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia.

Katrine S AagaardKlaus BrusgaardIeva MiceikaiteMartin J LarsenAnette D KjeldsenEmilie B LesterLilian B OusagerPernille Mathiesen Torring

Published in: Molecular genetics & genomic medicine (2020)

A disease-causing reciprocal translocation between chromosome 1 and 18 with a breakpoint in the SMAD4 locus co-segregated with JP-HHT in an extended family. This observation warrants further analysis for chromosomal rearrangements in individuals with clinical HHT or JP-HHT of unknown cause.

Keyphrases

copy number
epithelial mesenchymal transition
transforming growth factor
genome wide
dna methylation
gene expression
transcription factor