KAT6B基因杂合突变导致典型Say-Barber-Biesecker/Young-Simpson综合征1例  

A typical Say-Barber-Biesecker/Young-Simpson syndrome caused by heterozygous mutation of KAT6B gene

作　　者：刘静[1] 李卓[2] 贾政军[1] 滕炎玲 席惠[1] 王华[1] Liu Jing;Li Zhuo;Jia Zhengjun;Teng Yanling;Xi Hui;Wang Hua(Department of Medical Genetics,Hunan Maternal and Child Health Care Hospital,National Health Commission Key Laboratory of Birth Defect for Research and Prevention,Changsha 410008,China;Center for Medical Genetics,School of Life Sciences,Central South University,Changsha 410005,China;Hunan Jiahui Genetics Hospital,Changsha 410005,China)

机构地区：[1]湖南省妇幼保健院医学遗传科,国家卫生健康委出生缺陷研究与预防重点实验室,长沙410008 [2]中南大学生命科学学院医学遗传学研究中心,长沙410005 [3]湖南家辉遗传专科医院,长沙410005

出　　处：《中华实用儿科临床杂志》2021年第17期1349-1351,共3页Chinese Journal of Applied Clinical Pediatrics

基　　金：湖南省自然科学基金青年项目(2018JJ3275);湖南省卫计委科研计划课题(B20180083)。

摘　　要：对2018年9月湖南省妇幼保健院就诊的1例临床表现为"全面发育迟缓8年合并特殊面容"患儿的临床特点及基因检测结果进行回顾性分析。综合患儿临床表现及其高通量测序基因检测结果确诊为典型Say-Barber-Biesecker/Young-Simpson综合征(SBBYSS)。该患儿的基因检测结果提示KAT6B基因(NM_012330.3)c.3147G>A(p.P1049P)杂合同义突变,该同义突变导致产生新的剪切位点(受体),从而使得16号外显子5′-端127个碱基丢失,形成新的截短蛋白。这是迄今为止我国首例明确基因诊断并进行产前诊断的典型SBBYSS家系,其突变扩宽了中国人群KAT6B基因突变导致SBBYSS的突变谱,并为家系后续产前诊断提供了可靠的理论依据。A patient with global developmental delay and facial abnormality treated in Hunan Maternal and Child Health Care Hospital in September 2018 was diagnosed as a typical Say-Barber-Biesecker/Young-Simpson syndrome(SBBYSS)accompanied with comprehensive clinical manifestations and genetic testing was carried out.The patient carries a heterozygous synonymous mutation of KAT6B gene(NM_012330.3)c.3147G>A(p.P1049P),thus leading to the formation of a new cleavage site(receptor)and forming a new truncated protein.In Chinese,this is the second typical SBBYSS that has been identified and the first prenatal genetic diagnosis has been performed.This study has broadened the mutation spectrum of SBBYSS caused by the mutation of KAT6B gene in Chinese population.

关 键 词：Say-Barber-Biesecker/Young-Simpson综合征 KAT6B基因 全面发育落后 高通量测序 

分 类 号：R725.9[医药卫生—儿科]