Cases report of Johanson-Blizzard syndrome caused by compound heterozygous variation of UBR1 gene

Q4 Medicine

中华实用儿科临床杂志 Pub Date : 2020-01-05 DOI:10.3760/CMA.J.ISSN.2095-428X.2020.01.017

F. Zhang, Chaohai Wang

引用次数: 0

Abstract

对山西省儿童医院儿童重症医学科(PICU)收治的1例Johanson-Blizzard综合征(JBS)患儿的临床特点及基因资料进行回顾性分析。患儿，女，3月龄，因重症肺炎收入PICU，由于患儿存在生长发育落后，肛门闭锁并直肠舟状窝瘘，典型面部特征及内分泌功能紊乱等临床特点，考虑不能排除染色体疾病，经基因检测确诊为JBS。JBS是由E3泛素连接酶UBR1缺陷引起的，定位于15q15-21。基因测序结果显示，患儿(先证者)UBR1基因存在复合杂合变异，突变分别来源于其父母。通过对JBS的报道，以提高临床医师对JBS的认识，避免漏诊和误诊；同时提示基因检测是诊断罕见病的主要手段之一。

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UBR1基因复合杂合变异致Johanson-Brizzard综合征病例报告

A retrospective analysis was conducted on the clinical characteristics and genetic data of a child with Johanson Blizzard syndrome (JBS) admitted to the Pediatric Intensive Care Unit (PICU) of Shanxi Children's Hospital. A 3-month-old female patient was admitted to PICU due to severe pneumonia. Due to clinical features such as delayed growth and development, anal atresia and rectal navicular fistula, typical facial features, and endocrine dysfunction, it is considered that chromosomal diseases cannot be ruled out. After genetic testing, the patient was diagnosed with JBS. JBS is caused by a defect in the E3 ubiquitin ligase UBR1, located at 15q15-21. The gene sequencing results showed that the child (proband) had a compound heterozygous mutation in the UBR1 gene, with the mutations originating from their parents. By reporting on JBS, we aim to enhance clinical physicians' understanding of JBS and avoid misdiagnosis and missed diagnosis; At the same time, it is suggested that gene testing is one of the main methods for diagnosing rare diseases.

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来源期刊

中华实用儿科临床杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

0.60

自引率

0.00%

发文量

14243

期刊介绍： Chinese Journal of Applied Clinical Pediatrics ( semi-monthly ) is a core journal of paediatrics under the supervision of China Association for Science and Technology, sponsored by Chinese Medical Association and undertaken by Xinxiang Medical College. Founded in 1986, it is openly circulated both at home and abroad. The journal has several columns, such as Expert Forum, Experimental Research and Paediatric Surgery, which are mainly for paediatric medical workers and medical researchers in hospitals. Its purpose is to reflect the new theories and technologies in paediatric medicine and scientific research at home and abroad, and to promote academic exchanges. Chinese Journal of Applied Clinical Pediatrics is a source journal of China Science Citation Database (CSCD), a core journal of Peking University, a source journal of Chinese science and technology paper statistics (China Science and Technology Core Journals), a core academic journal of RCCSE, a high-quality scientific and technical journal of China, a high-quality scientific and technical journal of China Association for Science and Technology, and a high-quality scientific and technical journal of China Biomedical Science and Technology Association. We have been published in China Biomedical Literature Database (SinoMed), China Knowledge Network, Wanfang Data Knowledge Service Platform, China Academic Journal Abstracts, Scopus Database, Chemical Abstracts (USA), Japan Science and Technology Agency (JSTA) Database, Copernicus Abstracts (Poland), Abstracts of the Centre for Agricultural and Biological Sciences (CABS) of the United Kingdom, Cambridge Scientific Abstracts ProQuest Database, WHO Medical Journal of the Western Pacific Region (WMPR), and WHO Medical Journal of the Western Pacific Region (WMPR) of the United States. We have been included in dozens of authoritative databases at home and abroad, such as WHO Western Pacific Region Index of Medicine (WPRIM), Ullrich's Guide to Periodicals, and so on.