以生长发育迟缓为表现的1例O’Donnell-Luria-Rodan综合征临床与遗传学特征分析  

Clinical and genetic analysis of a case of O’Donnell-Luria-Rodan syndrome manifesting as growth retardation

作　　者：袁晶晶[1] 王玉君 黎露莎 谢艳红[1] 莫朝晖[1] 金萍[1] YUAN Jingjing;WANG Yujun;LI Lusha;XIE Yanhong;MO Zhaohui;JIN Ping(Department of Endocrinology,Third Xiangya Hospital,Central South University,Changsha 410013,China)

机构地区：[1]中南大学湘雅三医院内分泌科,长沙410013

出　　处：《中南大学学报（医学版）》2024年第4期649-654,共6页Journal of Central South University ：Medical Science

摘　　要：O’Donnell-Luria-Rodan(ODLURO)综合征是KMT2E(lysine methyltransferase 2E)基因突变引起的常染色体显性遗传病。中南大学湘雅三医院收治1例表现为生长发育迟缓、智力低下、特殊面容的12岁9个月男性患儿,采集患者外周血,提取DNA进行基因检测,发现患儿染色体核型为46XY,全外显子组测序及低深度全基因组测序技术(low-coverage massively parallel copy number variation sequencing,CNV-seq)分析显示患儿在染色体7q 22.3区域存在506 kb的杂合性缺失,缺失区域包含KMT2E在内的6个基因,诊断为ODLURO综合征。其父母、弟弟临床表型及基因检测均无异常,提示该缺失为新发突变。此病例的临床和遗传特征有助于提高临床医师对ODLURO综合征的认识。O’Donnell-Luria-Rodan(ODLURO)syndrome is an autosomal dominant genetic disorder caused by mutations in the KMT2E(lysine methyltransferase 2E)gene.The Third Xiangya Hospital of Central South University admitted a 12-year and 9-month-old male patient who presented with growth retardation,intellectual disability,and distinctive facial features.Peripheral blood was collected from the patient,and DNA was extracted for genetic testing.Chromosome karyotyping showed 46XY.Whole-exome sequencing and low-coverage massively parallel copy number variation sequencing(CNV-seq)revealed a 506 kb heterozygous deletion in the 7q22.3 region,which includes 6 genes,including KMT2E.The patient was diagnosed with ODLURO syndrome.Both the patient’s parents and younger brother had normal clinical phenotypes and genetic test results,indicating that this deletion was a de novo mutation.The clinical and genetic characteristics of this case can help increase clinicians’awareness of ODLURO syndrome.

关 键 词：O’Donnell-Luria-Rodan综合征 生长发育迟缓 低深度全基因组测序技术 

分 类 号：R725.9[医药卫生—儿科]