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

Lu,Yanjun; Zhu,Yaowu; Shi,Lili; Zhen,Hongtao; Sun,Ziyong; Cheng,Liming

doi:10.3892/mmr.2015.3442

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

Authors:
- Yanjun Lu
- Yaowu Zhu
- Lili Shi
- Hongtao Zhen
- Ziyong Sun
- Liming Cheng
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Affiliations: Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China, Department of Otolaryngology‑Head and Neck Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China
Published online on: March 5, 2015 https://doi.org/10.3892/mmr.2015.3442
Pages: 510-512

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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.

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