5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia

• Published in: Orphanet journal of rare diseases Vol. 6; no. 1; p. 85
• Main Authors: Damjanovich, Kristy, Langa, Carmen, Blanco, Francisco J, McDonald, Jamie, Botella, Luisa M, Bernabeu, Carmelo, Wooderchak-Donahue, Whitney, Stevenson, David A, Bayrak-Toydemir, Pinar
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 22.12.2011; BioMed Central; BMC
• Subjects: 5' Untranslated Regions - genetics; 5'UTR region; Adolescent; Adult; Aged; Animals; Antigens, CD - chemistry; Antigens, CD - genetics; Base Sequence; c.-127C > T; c.-9G > A; Care and treatment; Child; Child, Preschool; COS Cells; Diagnosis; Endoglin; ENG; Female; Gene mutations; Genetic aspects; homozygous; Humans; Male; Medical research; Middle Aged; Molecular Sequence Data; Mutation - genetics; Physiological aspects; Rare diseases; Receptors, Cell Surface - chemistry; Receptors, Cell Surface - genetics; Risk factors; Sequence Analysis, DNA; Telangiectasia, Hereditary Hemorrhagic; Telangiectasia, Hereditary Hemorrhagic - genetics; Transfection; Spain

Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by epistaxis, arteriovenous malformations, and telangiectases. The majority of the patients have a mutation in the coding region of the activin A receptor type II-like 1 (ACVRL1) or Endoglin (ENG) gene. However, in appr...