立陶宛首例由新型 NOTCH2 基因致病变体引起的哈伊杜-切尼综合征病例

IF 1.6 4区医学 Q3 GENETICS & HEREDITY

European journal of medical genetics Pub Date : 2024-04-04 DOI:10.1016/j.ejmg.2024.104938

Ieva Tėvelytė , Paulius Bertašius , Kristina Aleknavičienė , Rimvydas Jonikas , Justina Klimaitė , Edita Jašinskienė , Rasa Traberg

{"title":"立陶宛首例由新型 NOTCH2 基因致病变体引起的哈伊杜-切尼综合征病例","authors":"Ieva Tėvelytė , Paulius Bertašius , Kristina Aleknavičienė , Rimvydas Jonikas , Justina Klimaitė , Edita Jašinskienė , Rasa Traberg","doi":"10.1016/j.ejmg.2024.104938","DOIUrl":null,"url":null,"abstract":"<div><p>Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. HCS is caused by pathogenic variants in the <em>NOTCH2</em> gene, 34th exon. We report first familial case of HCS caused by likely pathogenic variant of <em>NOTCH2</em> gene c.6449delC, p.(Pro2150LeufsTer5).</p></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"69 ","pages":"Article 104938"},"PeriodicalIF":1.6000,"publicationDate":"2024-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1769721224000302/pdfft?md5=4849b7130208fd760f1e1699068d035c&pid=1-s2.0-S1769721224000302-main.pdf","citationCount":"0","resultStr":"{\"title\":\"First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant\",\"authors\":\"Ieva Tėvelytė , Paulius Bertašius , Kristina Aleknavičienė , Rimvydas Jonikas , Justina Klimaitė , Edita Jašinskienė , Rasa Traberg\",\"doi\":\"10.1016/j.ejmg.2024.104938\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. HCS is caused by pathogenic variants in the <em>NOTCH2</em> gene, 34th exon. We report first familial case of HCS caused by likely pathogenic variant of <em>NOTCH2</em> gene c.6449delC, p.(Pro2150LeufsTer5).</p></div>\",\"PeriodicalId\":11916,\"journal\":{\"name\":\"European journal of medical genetics\",\"volume\":\"69 \",\"pages\":\"Article 104938\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2024-04-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S1769721224000302/pdfft?md5=4849b7130208fd760f1e1699068d035c&pid=1-s2.0-S1769721224000302-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of medical genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1769721224000302\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of medical genetics","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1769721224000302","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

哈伊杜-切尼综合征（HCS）是一种极其罕见的常染色体显性骨骼疾病。发病率不到每 100 万新生儿中 1 例，医学文献中仅报道过 50 例。HCS 的特征是远端趾骨进行性骨吸收（尖骨溶解）、进行性骨质疏松症、明显的颅面改变、牙齿异常，偶尔伴有肾功能异常。HCS是由NOTCH2基因第34外显子的致病变异引起的。我们报告了首例由NOTCH2基因c.6449delC, p.(Pro2150LeufsTer5) 致病变体引起的家族性HCS病例。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

First case of Hajdu-Cheney syndrome in Lithuania caused by novel NOTCH2 gene likely pathogenic variant

Hajdu-Cheney syndrome (HCS) is an extremely rare autosomal dominant skeletal disorder. The prevalence rate of less than 1 case per 1,000,000 newborns and only 50 cases were reported in the medical literature. HCS is characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities. HCS is caused by pathogenic variants in the NOTCH2 gene, 34th exon. We report first familial case of HCS caused by likely pathogenic variant of NOTCH2 gene c.6449delC, p.(Pro2150LeufsTer5).

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

European journal of medical genetics 医学-遗传学

CiteScore

4.10

自引率

0.00%

发文量

193

审稿时长

66 days

期刊介绍： The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models. Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as : • Dysmorphology and syndrome delineation • Molecular genetics and molecular cytogenetics of inherited disorders • Clinical applications of genomics and nextgen sequencing technologies • Syndromal cancer genetics • Behavioral genetics • Community genetics • Fetal pathology and prenatal diagnosis • Genetic counseling.