Yuan Jingjing, Wang Yujun, Li Lusha, Xie Yanhong, Mo Zhaohui, Jin Ping
Department of Endocrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2024 Apr 28;49(4):649-654. doi: 10.11817/j.issn.1672-7347.2024.230359.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant genetic disorder caused by mutations in the (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 . 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.
奥唐奈-卢里亚-罗丹（ODLURO）综合征是一种常染色体显性遗传病，由（赖氨酸甲基转移酶2E）基因突变引起。中南大学湘雅三医院收治了一名12岁9个月大的男性患者，该患者表现出生长发育迟缓、智力障碍以及独特的面部特征。采集了该患者的外周血，并提取DNA进行基因检测。染色体核型分析显示为46XY。全外显子测序和低覆盖度大规模平行拷贝数变异测序（CNV-seq）揭示在7q22.3区域存在一个506 kb的杂合缺失，该区域包含6个基因，其中包括。该患者被诊断为ODLURO综合征。患者的父母和弟弟临床表型及基因检测结果均正常，表明该缺失为新发突变。该病例的临床和遗传特征有助于提高临床医生对ODLURO综合征的认识。
