Genetic analysis of a child with Hereditary hemorrhagic telangiectasia type Ⅰ in conjunct with Splenic sinus shore cell hemangioma
10.3760/cma.j.cn511374-20230726-00019
- VernacularTitle:遗传性出血性毛细血管扩张症I型合并脾窦岸细胞血管瘤患儿1例的遗传学分析
- Author:
Xueyan LUO
1
;
Fuhui DUAN
;
Jianglei MA
;
Guangming WANG
Author Information
1. 大理大学第一附属医院基因检测中心，大理 671013
- Keywords:
Hereditary hemorrhagic telangiectasia;
ENG gene;
Splicing variant;
Genetic testing;
Littoral cell angioma
- From:
Chinese Journal of Medical Genetics
2024;41(8):925-930
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis and pathogenesis for a child with type Ⅰ Hereditary hemorrhagic telangiectasia (HHTⅠ) and Splenic sinus shore cell hemangioma (LCA).Methods:A child with HHT complicated with LCA diagnosed at the First Affiliated Hospital of Dali University in April 2022 was selected as the study subject. Clinical data of the child and her relatives were collected, and pathogenic variants were screened by whole exome sequencing. Candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results:The patient, a 16-year-old female, had recurrent epitaxis since childhood, which sometimes necessitated hemostasis treatment. She also had splenectomy due to splenic rupture and was diagnosed with LCA. Her father and grandmother also had a history of recurrent epitaxis. Her father had deceased due to cerebral vascular rupture. The child was found to harbor a c. 360+ 1G>A variant in the ENG gene. The same variant was not found in her asymptomatic mother and brother. Conclusion:The c.360+ 1G>A variant of the ENG gene probably underlay the pathogenesis in this child.
