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

Q3 Medicine

中南大学学报(医学版) Pub Date : 2024-04-28 DOI:10.11817/j.issn.1672-7347.2024.230359

Jingjing Yuan, Yujun Wang, Lusha Li, Yanhong Xie, Zhaohui Mo, Ping Jin

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引用次数: 0

Abstract

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.

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一例表现为生长迟缓的奥唐奈-卢里亚-罗丹综合征的临床和遗传分析。

奥唐纳-卢里亚-罗丹（ODLURO）综合征是一种常染色体显性遗传疾病，由KMT2E（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 岁零 9 个月大的男性患者，该患者表现为生长迟缓、智力障碍和明显的面部特征。采集了患者的外周血，提取 DNA 进行基因检测。染色体核型检查结果显示为 46XY。全外显子组测序和低覆盖率大规模平行拷贝数变异测序（CNV-seq）显示，7q22.3区域有一个506 kb的杂合缺失，其中包括KMT2E等6个基因。患者被诊断为 ODLURO 综合征。患者的父母和弟弟的临床表型和基因检测结果均正常，这表明该缺失是一个新发突变。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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中南大学学报(医学版) Medicine-Medicine (all)

CiteScore

1.00

自引率

0.00%

发文量

8237

期刊介绍： Journal of Central South University (Medical Sciences), founded in 1958, is a comprehensive academic journal of medicine and health sponsored by the Ministry of Education and Central South University. The journal has been included in many important databases and authoritative abstract journals at home and abroad, such as the American Medline, Pubmed and its Index Medicus (IM), the Netherlands Medical Abstracts (EM), the American Chemical Abstracts (CA), the WHO Western Pacific Region Medical Index (WPRIM), and the Chinese Science Citation Database (Core Database) (CSCD); it is a statistical source journal of Chinese scientific and technological papers, a Chinese core journal, and a "double-effect" journal of the Chinese Journal Matrix; it is the "2nd, 3rd, and 4th China University Excellent Science and Technology Journal", "2008 China Excellent Science and Technology Journal", "RCCSE China Authoritative Academic Journal (A+)" and Hunan Province's "Top Ten Science and Technology Journals". The purpose of the journal is to reflect the new achievements, new technologies, and new experiences in medical research, medical treatment, and teaching, report new medical trends at home and abroad, promote academic exchanges, improve academic standards, and promote scientific and technological progress.