Identification of a novel ENG gene mutation (c.1550_1551dupTG, p.S518*) in a Chinese family with hereditary hemorrhagic telangiectasia.
Med Clin (Barc)
; 157(11): 537-541, 2021 12 10.
Article
en En, Es
| MEDLINE
| ID: mdl-34728086
BACKGROUND: It is very important to diagnose Hereditary hemorrhagic telangiectasia (HHT) early through appropriate screening and preventive treatment of a patient and their affected family members. This study aimed to report on a case of a Chinese family with heterozygous ENG-related HHT. METHODS: Gene mutations were identified by whole-exome sequencing and physical examination were conducted to reveal the clinical symptoms. RESULTS: Physical examination revealed symptomatic anaemia, coagulation system disorder and multiple red or pink spots reflecting telangiectases on the eyelids, tongue, palate and nasal cavity. Nine other affected relatives were identified in examining his family tree, among which three family members had died due to nose bleeding and one member presented symptomatic anaemia requiring blood transfusions. A novel heterozygous variation c.1550_1551dupTG (p.S518*) in ENG gene was identified. CONCLUSIONS: The patient and his daughter were confirmed to have heterozygous ENG-related HHT and the novel ENG heterozygous variant may play an important role on the severe symptoms of HHT. However, further case follow-up and functional studies should be conducted to confirm these mechanismal hypotheses.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Telangiectasia Hemorrágica Hereditaria
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
/
Es
Revista:
Med Clin (Barc)
Año:
2021
Tipo del documento:
Article
País de afiliación:
China
Pais de publicación:
España