Clinical genetic analysis and diagnosis of a family with hereditary hemorrhagic telangiectasia / 中华耳鼻咽喉头颈外科杂志
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
; (12): 1307-1312, 2021.
Article
在 Zh
| WPRIM
| ID: wpr-942617
Responsible library:
WPRO
ABSTRACT
Objective:
To explore the diagnostic significance of the combination of clinical and genetic detection of hereditary hemorrhagic telangiectasia (HHT) by analyzing the clinical and genetic diagnosis of a family with HHT.Methods:
Medical history data of the probands and their family members were collected, and the sequence analyses of coding regions of ENG, ACVRL1, SMAD4 and GDF2 genes were performed by PCR-sequencing method, and a comprehensive diagnosis was made based on the clinical features and gene detection results. After the pathogenic gene variation was identified, 11 members of 3 generations of the family were tested for pathogenic gene mutation.Results:
There was an ACVRL1 c.715_716delAG mutation in the proband and 9 other family members, which caused p.S239C. Based on the clinical and genetic findings, the 7 suspected were diagnosed and 2 asymptomatic patients were found to carry the mutation site.Conclusion:
The combination of clinical features and gene detection can determine the etiology and classification of HHT, which is convenient for the early diagnosis and prevention of the disease.
全文:
1
索引:
WPRIM
主要主题:
Telangiectasia, Hereditary Hemorrhagic
/
Genetic Testing
/
Sequence Analysis
/
Activin Receptors, Type II
/
Endoglin
/
Mutation
研究类型:
Diagnostic_studies
/
Prognostic_studies
/
Screening_studies
限制:
Humans
语言:
Zh
期刊:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
年:
2021
类型:
Article