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
in 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.
Full text:
1
Index:
WPRIM
Main subject:
Telangiectasia, Hereditary Hemorrhagic
/
Genetic Testing
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Sequence Analysis
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Activin Receptors, Type II
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Endoglin
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Mutation
Type of study:
Diagnostic_studies
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Prognostic_studies
/
Screening_studies
Limits:
Humans
Language:
Zh
Journal:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
Year:
2021
Type:
Article