Anovel BRF1mutation intwomiddle-aged siblingswith cerebellofaciodental syndrome

作     者：Xin Zhao Yan Lan Jinfeng Miao Guo Li Wenzhe Sun Xiuli Qiu Suiqiang Zhu Zhou Zhu Xin Zhao;Yan Lan;Jinfeng Miao;Guo Li;Wenzhe Sun;Xiuli Qiu;Suiqiang Zhu;Zhou Zhu

作者机构：Department of NeurologyTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanHubei 430030China. 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2022年第135卷第19期

页      面：2375-2377页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：National Key R&D Program of China(No. 2017YFC1310000) the Fundamental Research Funds for the Central Universities(No. 2018KFYXMPT015) the Hubei Technological Innovation Special Fund(CN) the National Natural Science Fund of China(No. 82001218) 

主　　题：facial clinical expanding 

摘      要：To the Editor:Cerebellar-facial-dental syndrome(CFDS)is a rareand autosomal recessive(AR)neurodevelopmental disease,characterized by cerebellar hypoplasia and intellectual disability,facial dysmorphisms,short stature,microcephaly,and dental anomalies.ll in 20is,Borck et observed threepairs of siblings with apreviously undescribed pattern of abnormalities andestablished CFD s as a clinicalentity,To date,a total of six CFDS families have been reported.li 4iThe age of the reported patients ranges from infancy to early adulthood.Since the rarity of CFDS,more study is requiredforevaluatingits natural historyand clinical characteristics.This paper would liketo report a novel homozygous BRF1 gene mutation in two middleaged CFDS patients from Chinese,and to summarize its clinical and genetic characteristics,reinforcing the pathogenicity of BRF1 gene mutations and expanding the manifestation spectrum of CFDS.