title: A novel endoglin mutation in hereditary hemorrhagic telangiectasia type 1: a case report.
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.
authors.affiliation: Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
authors.forename: Yanjun
authors.initials: Y
authors.lastname: Lu
authors.affiliation: Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
authors.forename: Yaowu
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: Department of Otolaryngology‑Head and Neck Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
authors.forename: Lili
authors.initials: L
authors.lastname: Shi
authors.affiliation: Department of Otolaryngology‑Head and Neck Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
authors.forename: Hongtao
authors.initials: H
authors.lastname: Zhen
authors.affiliation: Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
authors.forename: Ziyong
authors.initials: Z
authors.lastname: Sun
authors.affiliation: Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430030, P.R. China.
authors.forename: Liming
authors.initials: L
authors.lastname: Cheng
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D000071063:Endoglin; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011956:Receptors, Cell Surface / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics* / Q000473:pathology
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface