Phenotypic characterisation of SMAD4 variant carriers.

ABSTRACT:

Background

Both hereditary haemorrhagic telangiectasia (HHT) and juvenile polyposis syndrome (JPS) are known to be caused by SMAD4 pathogenic variants, with overlapping symptoms for both disorders in some patients. Additional connective tissue disorders have also been reported. Here, we describe carriers of SMAD4 variants followed in an HHT reference centre to further delineate the phenotype.

Methods

Observational study based on data collected from the Clinical Investigation for the Rendu-Osler Cohort database.

Results

Thirty-three participants from 15 families, out of 1114 patients with HHT, had an SMAD4 variant (3%).Regarding HHT, 26 out of 33 participants (88%) had a definite clinical diagnosis based on Curaçao criteria. Complication frequencie

SUBMITTER: Caillot C 

PROVIDER: S-EPMC11287639 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature