RORA基因截短变异致智力发育障碍伴小脑共济失调一家系的临床分析与基因诊断  

Clinical and pedigree genetic analysis of intellectual developmental disorder with cerebellar ataxia caused by a truncated variation in RORA gene

作　　者：刘舒[1] 张也 韦思思 欧阳海梅[2] 梁金群[1] 陈暖[1] 曾伟宏[1] 江剑辉[1] Liu Shu;Zhang Ye;Wei Sisi;Ouyang Haimei;Liang Jingqun;Chen Nuan;Zeng Weihong;Jiang Jianhui(Children Inherited Metabolism and Endocrine Department,Guangdong Women and Children Hospital,Guangzhou 511400,Guangdong,China;Medical Service Department,Guangdong Women and Children Hospital,Guangzhou 511400,Guangdong,China)

机构地区：[1]广东省妇幼保健院儿童遗传代谢与内分泌科,广东广州511442 [2]广东省妇幼保健院医务科,广东广州511442

出　　处：《中国产前诊断杂志（电子版）》2021年第2期24-28,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广东省自然科学基金面上项目(2021A1515010969);广东省中医药局科研项目(20211046)。

摘　　要：目的通过分子遗传学检测分析揭示1例表现为智力发育障碍伴小脑共济失调患儿的病因是由RORA基因变异导致的。方法采用家系全外显子基因测序方法对广东省妇幼保健院儿童遗传代谢与内分泌科收治的1例4岁以“智力发育迟缓,走路不稳易跌倒”为主要临床表现的男童及患儿父母进行检测,对阳性结果进行Sanger验证。结果发现患儿携带RORA基因一个新发致病变异位点c.79C>T(p.R27*)。该变异位点是导致患儿智力发育障碍伴小脑共济失调的致病原因。结论证实了家系全外显子检测是诊断儿童生长发育迟缓的重要方法;丰富了RORA基因致病变异谱和临床表型谱;为后续精准治疗和优生优育,打下了坚实的基础。Objective Systematic genetic analysis revealed that the variation of RORA gene was the cause of intellectual developmental disorder with cerebellar ataxia.Methods In this study,whole exome sequencing(WES)was applied for detection a 4-year-old boy manifested as intellectual developmental disorder with cerebellar ataxia.Results The study found a de novo variation c.79C>T(p.R27*)of the RORA gene is the cause of this phenotype.Conclusions It is confirmed that WES detection is critical method for diagnosing of growth retardation in children,which enriching the RORA gene’s pathogenic locus spectrum and phenotypic characteristics,which lay a solid foundation for accurate treatment and aristogenesis of this family.

关 键 词：智力发育障碍伴小脑共济失调 全外显子基因测序 RORA基因 步态不稳 

分 类 号：R714.55[医药卫生—妇产科学]