BRPF1基因变异导致IDDDFP综合征1例报道

A case report of IDDDFP syndrome caused by BRPF1 gene mutation

目的探讨BRPF1基因变异导致IDDDFP综合征患儿的临床及基因变异特点。方法回顾分析1例IDDDFP综合征患儿的临床资料及基因结果。结果患儿,男,于9月龄就诊,全面发育落后,肌张力低下,上睑下垂,双侧隐睾;Gesell发育评估示综合发育商63.0分,整体发育迟滞。基因分析示BRPF1基因存在c.1182_1183delAG(p.A396fs*69)杂合变异,经基因功能预测具有致病性,患儿确诊为BRPF1基因相关IDDDFP综合征。结论总结了IDDDFP综合征临床表型,首次报道1例中国患儿,为临床诊断及遗传咨询提供依据。

Objective To investigate the clinical and genetic variation characteristics of IDDDFP syndrome in children caused by BRPF1 gene mutation. Methods The clinical data and genetic results of a child with IDDDFP syndrome were analyzed retrospectively. Results The male patient, was diagnosed at 9 months, with global growth retardation, mental disability, ptosis and bilateral cryptorchidism. According to Gesell’s development evaluation, the comprehensive development quotient was 63.0, and the overall growth was retarded. Genetic analysis showed the existence of c.1182_1183delAG(p.A396fs*69) heterozygous variation in BRPF1 gene. The pathogenicity was predicted by gene function, and the patient was diagnosed with BRPF1 gene-related IDDDFP syndrome. Conclusion The clinical phenotype of IDDDFP syndrome is summarized, and a case of Chinese child is reported for the first time to provide the basis for clinical diagnosis and genetic counseling.