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 

机构地区：[1]Department of Neurology,Tongji Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan,Hubei 430030,China.

出　　处：《Chinese Medical Journal》2022年第19期2375-2377,共3页中华医学杂志（英文版）

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)

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.

关 键 词：FACIAL CLINICAL EXPANDING 

分 类 号：R741[医药卫生—神经病学与精神病学]