Bardet-Biedl综合征1例报告并文献复习

Bardet-Biedl syndrome: a case report and literature review

目的提高对Bardet-Biedl综合征临床表现和致病基因特点的认识。方法回顾性分析1例确诊为BardetBiedl综合征患儿临床、实验室资料及基因检测结果,并复习相关文献。结果患儿,男,13岁,临床表现有多趾畸形、视网膜色素变性、性腺发育不全、肥胖、智力发育迟缓、肾囊性发育不全、慢性肾功能不全、糖耐量异常、尿道下裂、脂肪肝、贫血、矮小症。高通量测序分析发现患儿BBS2基因存在纯合突变(c.1148_1149dup TC,p.His384Serfs*34),其父母该位点均为杂合子。结论借助于高通量测序技术,有助于得到明确的Bardet-Biedl综合征分子诊断。该患儿BBS2基因的变异未在HGMD、Ex AC及Clin Var数据库中收录,为国内外首次报道。

Objective To enhance the understanding of the clinical features and the genetic features of Bardet-Biedl syndrome. Method The clinical and laboratory data and gene detection results from one child with Bardet-Biedl syndrome were retrospectively analyzed. The related literatures were reviewed. Results Thirteen years old boy, clinically manifested polydactylism, retinitis pigmentosa, gonadal dysgenesis, obesity, mental retardation, cystic renal dysplasia, chronic renal insufficiency, impaired glucose tolerance, hypospadias, fatty liver, anemia, and short stature. High-throughput sequencing showed a homozygosis of c. 1148_1149dupTC, p.His384Serfs＊34 in BBS2 gene, and the locus was heterozygote in both of his parents. Conclusion The molecular diagnosis by high-throughput sequencing is helpful in the diagnosis of Bardet-Biedl syndrome. The BBS2 gene variation has not been reported in the database of HGMD, ExAC, or ClinVar, and it is the new discover at home and abroad.