Hereditary haemorrhagic telangiectasia: mutation detection, test sensitivity and novel mutations.

ABSTRACT:

Background

Hereditary haemorrhagic telangiectasia (HHT) is a genetic disorder present in 1 in 8000 people and associated with arteriovenous malformations. Genetic testing can identify individuals at risk of developing the disease and is a useful diagnostic tool.

Objective

To present a strategy for mutation detection in families clinically diagnosed with HHT.

Methods

An optimised strategy for detecting mutations that predispose to HHT is presented. The strategy includes quantitative multiplex polymerase chain reaction, sequence analysis, RNA analysis, validation of missense mutations by amino acid conservation analysis for the ENG (endoglin) and ACVRL1 (ALK1) genes, and analysis of an ACVRL1 protein structural model. If no causative ENG or ACVRL1 mutation is found, pro

SUBMITTER: Prigoda NL 

PROVIDER: S-EPMC2564570 | biostudies-literature | 2006 Sep

REPOSITORIES: biostudies-literature