Format

Send to

Choose Destination
Mol Med Rep. 2015 Jul;12(1):510-2. doi: 10.3892/mmr.2015.3442. Epub 2015 Mar 5.

A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.

Author information

1
Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
2
Department of Otolaryngology‑Head and Neck Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by aberrant vascular development. Mutations in two genes, endoglin (ENG) and activin receptor-like kinase 1 (ACVRL1) are associated with HHT. The present case study revealed the molecular diagnosis in a family exhibiting the clinical features of HHT disease. The coding exon and flanking intronic regions of the ENG and ACVRL1 genes were sequenced and a novel mutation in exon 10 of ENG was observed in the family. The mutation (c.1426C>T) in exon 10 of the ENG gene caused a G476X mutation, which results in a premature stop codon and a truncated ENG protein. This finding demonstrated a novel mutation in the ENG gene in a Chinese family, which suggested that a truncated ENG protein may cause HHT. The present study established a genetic test to confirm the clinical diagnosis in individuals and provide an opportunity for early detection and management of the disease.

PMID:
25760803
DOI:
10.3892/mmr.2015.3442
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Spandidos Publications
Loading ...
Support Center