{"title":"Case report of compound novel heterozygous mutations of TRPM6 gene in hypomagnesaemia with secondary hypocalcaemia","authors":"Wen Li, Jianhua Mao","doi":"10.3760/CMA.J.CN101070-20190123-00052","DOIUrl":null,"url":null,"abstract":"回顾性分析浙江大学医学院附属儿童医院收治的1例原发性低镁血症继发低钙血症患儿的临床资料及随访资料。患儿为8月龄男童，临床表现为婴儿期出现的惊厥、生长发育迟缓、精神发育迟滞。通过补镁等对症治疗后患儿临床症状缓解。最终通过亚全外显子测序，检测到患儿TRPM6基因的复合杂合突变，分别为c.5386A>T(p.K1796X)和c.453_454del(p.M151fs)。提示基因检测是确诊该病的金标准，本研究发现TRPM6基因的2种新的突变。","PeriodicalId":9843,"journal":{"name":"中华实用儿科临床杂志","volume":"35 1","pages":"308-309"},"PeriodicalIF":0.0000,"publicationDate":"2020-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华实用儿科临床杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/CMA.J.CN101070-20190123-00052","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Retrospective analysis of clinical and follow-up data of a child with primary hypomagnesemia and secondary hypocalcemia admitted to the Children's Hospital of Zhejiang University School of Medicine. The patient is an 8-month-old boy with clinical manifestations of convulsions, growth and development delays, and mental retardation during infancy. After symptomatic treatment such as magnesium supplementation, the clinical symptoms of the child are relieved. Finally, compound heterozygous mutations in the TRPM6 gene of the patient were detected through subtotal exon sequencing, with c.5386A>T (p.K1796X) and c.453, respectively_ 454del (p.M151fs). Gene testing is the gold standard for diagnosing this disease, and this study found two new mutations in the TRPM6 gene.
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.
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