[HTML][HTML] Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
J McDonald, P Bayrak-Toydemir, D DeMille… - Genetics in …, 2020 - Elsevier
Purpose Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals
who meet consensus (Curaçao) criteria for the clinical diagnosis of hereditary hemorrhagic
telangiectasia. Methods Review of HHT center database for individuals with three or more
HHT diagnostic criteria, in whom molecular genetic analysis for ENG, ACVRL1, and SMAD4
had been performed. Results A variant known or suspected to be causal was detected in
ENG in 67/152 (44.1%; 95% confidence interval [CI], 36.0–52.4%), ACVRL1 in 79/152 …
who meet consensus (Curaçao) criteria for the clinical diagnosis of hereditary hemorrhagic
telangiectasia. Methods Review of HHT center database for individuals with three or more
HHT diagnostic criteria, in whom molecular genetic analysis for ENG, ACVRL1, and SMAD4
had been performed. Results A variant known or suspected to be causal was detected in
ENG in 67/152 (44.1%; 95% confidence interval [CI], 36.0–52.4%), ACVRL1 in 79/152 …