Bardet-Biedl syndrome in a female due to a novel compound heterozygous mutations in BBS10 gene: One case report and literature review
10.3760/cma.j.cn311282-20201222-00845
- VernacularTitle:一例携带BBS10基因复合杂合新突变的巴尔得-别德尔综合征病例报道及文献复习
- Author:
Xiaoyu LU
1
;
Lingqing YUAN
;
Chen CHAO
Author Information
1. 中南大学湘雅二医院代谢内分泌科，国家代谢性疾病临床医学研究中心 长沙 410011
- Keywords:
Bardet-Biedl syndrome;
Case report
- From:
Chinese Journal of Endocrinology and Metabolism
2022;38(6):522-525
- CountryChina
- Language:Chinese
-
Abstract:
Bardet-Biedl syndrome (BBS) is a rare and highly heterogeneous autosomal recessive disease caused by ciliary structure abnormality or dysfunction. Here we report a case of a 23-year-old woman who was diagnosed with BBS with a rare BBS10 gene mutation. Literature review was performed with a focus to outline treatment and management plans for patients with this rare and potentially dangerous disease.
