Traboulsi syndrome caused by a newly discovered homozygous mutation of the ASPH gene: a case report
10.3760/cma.j.cn101070-20210223-00215
- VernacularTitle:ASPH基因新发纯合突变致Traboulsi综合征1例
- Author:
Danhong WANG
1
;
Xiuling CHEN
;
Jianping ZHU
;
Jun LU
Author Information
1. 中南大学湘雅医学院附属海口医院儿童医学部，海口 570208
- Keywords:
Traboulsi syndrome;
Lens ectopia;
ASPH gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2022;37(7):549-551
- CountryChina
- Language:Chinese
-
Abstract:
Clinical data of a child with Traboulsi syndrome diagnosed in Affiliated Haikou Hospital of Xiangya Medical College, Central South University in November 2019 were retrospectively analyzed.A 9-year-old female patient presented with vision loss for 3 years.Ectopic lens and a special facial appearance were the main manifestations.Genetic testing showed a homozygous mutation at the c. 1126C > T site of the ASPH gene in the present case, and finally, Traboulsi syndrome was diagnosed.The clinical manifestation of Traboulsi syndrome is not typical.Mastering the main diagnostic points is helpful to improve the efficacy of clinical diagnosis and treatment.c.1126C>T mutation of the ASPH gene has not been reported in China and abroad.It is a newly discovered mutation that enriches the ASPH gene spectrum.
