Clinical and genetic studies of a family with hereditary angioedema.
10.3760/cma.j.cn115330-20211209-00789
- VernacularTitle:一个遗传性血管性水肿家系的临床及基因研究
- Author:
Wei JIA
1
;
Li Min SUO
2
;
Lin Jing FAN
3
;
Pei DONG
3
;
Tong LI
3
;
Yong Jin JI
3
;
Jin Mei XUE
3
;
Yun Fang AN
3
;
Chang Qing ZHAO
3
;
Ya Qian ZHANG
4
;
Jianxiong DUAN
5
Author Information
1. Department of Biochemistry and Molecular Biology, Basic Medical College, Shanxi Medical University, Taiyuan 030001, China.
2. Department of Biochemistry and Molecular Biology, Basic Medical College, Shanxi Medical University, Taiyuan 030001, China Department of Otorhinolaryngology Head Neck Surgery, the Second Hospital, Shanxi Medical University, Key Research Laboratory of Airway Neuroimmunology, Taiyuan 030001, China.
3. Department of Otorhinolaryngology Head Neck Surgery, the Second Hospital, Shanxi Medical University, Key Research Laboratory of Airway Neuroimmunology, Taiyuan 030001, China.
4. Shanxi Guoxin Caregeno Medical Laboratory, Taiyuan 030001, China.
5. Shanxi Guoxin Caregeno Medical Laboratory, Taiyuan 030001, China Shanghai Lanwei Medical Laboratory Co., LTD., Shanghai 200335, China.
- Publication Type:Journal Article
- MeSH:
Angioedemas, Hereditary/genetics*;
Asian People;
Female;
Humans;
Male;
Mutation;
Pedigree;
Retrospective Studies
- From:
Chinese Journal of Otorhinolaryngology Head and Neck Surgery
2022;57(8):980-985
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To diagnose a large family of patients with hereditary angioedema, and to study its inheritance pattern and gene locus. Methods: A retrospective analysis was carried out from August 2021 to February 2022 in a proband (female, 48 years old) and 12 family members who underwent medical history collection and laboratory examinations in the Department of Otorhinolaryngology and Head and Neck Surgery, the Second Hospital of Shanxi Medical University. The clinical data of members and non-affected members [including 7 males and 5 females, aged 12-78 (median 24) years old], were drawn a family map while confirming the diagnosis. Whole exome sequencing technology was used to detect the genetic sequence of the proband and to verify its family members to map the genetic pedigree of the mutation. Results: The inheritance pattern of the family was autosomal dominant, and 8 members of the family were diagnosed with hereditary angioedema by laboratory examination, including 7 cases of type I and 1 case of type Ⅱ. Whole exome sequencing analysis was performed on 2 patients with 2 phenotypes, and it was found that they both carried the same pathogenic mutation locus, which was c.890-2A>G. The family members were verified by next-generation sequencing, and it was found that all members of the family who had a history of edema contained this mutation site, while the younger brother of the proband who had no history of edema did not have this mutation. Conclusion: Both type Ⅰ and type Ⅱ phenotypes are present in this hereditary angioedema family, and the mutation of SERPING1 gene c.890-2A>G causes the onset of each patient in this family.
