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Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2)
- Source :
- Genetics in Medicine. 22:1201-1205
- Publication Year :
- 2020
- Publisher :
- Elsevier BV, 2020.
-
Abstract
- Determine the variant detection rate for ENG, ACVRL1, and SMAD4 in individuals who meet consensus (Curacao) criteria for the clinical diagnosis of hereditary hemorrhagic telangiectasia. 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. 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 (52.0%; 95% CI, 43.7–60.1%), and SMAD4 in 2/152 (1.3%; 95% CI, 0.2–4.7%) family probands with definite HHT. Only 4/152 (2.6%; 95% CI, 0.7–6.6%) family probands did not have a variant in one of these genes. Previous reports of the variant detection rate for ENG and ACVRL1 in HHT patients have come from laboratories, which receive samples from clinicians with a wide range of expertise in recognizing clinical manifestations of HHT. These studies suggest a significantly lower detection rate (~75–85%) than we have found in patients who meet strictly applied consensus criteria (96.1%). Analysis of SMAD4 adds an additional detection rate of 1.3%. HHT as defined by the Curacao criteria is highly predictive of a causative variant in either ENG or ACVRL1.
- Subjects :
- 0301 basic medicine
Proband
medicine.medical_specialty
business.industry
Consensus criteria
ACVRL1
030105 genetics & heredity
Confidence interval
Molecular analysis
03 medical and health sciences
030104 developmental biology
Clinical diagnosis
Internal medicine
Medicine
In patient
medicine.symptom
business
Telangiectasia
Genetics (clinical)
Subjects
Details
- ISSN :
- 10983600
- Volume :
- 22
- Database :
- OpenAIRE
- Journal :
- Genetics in Medicine
- Accession number :
- edsair.doi...........135aa12a193d89ab8fdbb7ab2e8e1193