Amy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis
{"title":"通过超快速基因组测序诊断出与门克氏症有关的 ATP7A 新型可能致病变体。","authors":"Amy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis","doi":"10.1136/bcr-2024-259792","DOIUrl":null,"url":null,"abstract":"<p><p>Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfunction and developmental regression after 2-3 months of age. The primary variant associated with Menkes is in the <i>ATP7A</i> gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat. Emerging technology for ultrarapid genome sequencing offers a DNA-based route of diagnosis with preliminary results in hours, allowing for earlier discovery and treatment of Menkes with the potential for better long-term outcomes. Ultrarapid whole genome sequencing identified a novel, likely pathogenic, frameshift variant in the <i>ATP7A</i> gene consistent with a diagnosis of Menkes disease. The clinical manifestations and pathophysiology of this disorder, as well as a rapid DNA-based diagnosis, are described in this case.</p>","PeriodicalId":9080,"journal":{"name":"BMJ Case Reports","volume":null,"pages":null},"PeriodicalIF":0.6000,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Novel, likely pathogenic variant in <i>ATP7A</i> associated with Menkes disease diagnosed with ultrarapid genome sequencing.\",\"authors\":\"Amy Backal, Milen Velinov, Jazmin Garcia, Cassandra L Louis\",\"doi\":\"10.1136/bcr-2024-259792\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfunction and developmental regression after 2-3 months of age. The primary variant associated with Menkes is in the <i>ATP7A</i> gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat. Emerging technology for ultrarapid genome sequencing offers a DNA-based route of diagnosis with preliminary results in hours, allowing for earlier discovery and treatment of Menkes with the potential for better long-term outcomes. Ultrarapid whole genome sequencing identified a novel, likely pathogenic, frameshift variant in the <i>ATP7A</i> gene consistent with a diagnosis of Menkes disease. The clinical manifestations and pathophysiology of this disorder, as well as a rapid DNA-based diagnosis, are described in this case.</p>\",\"PeriodicalId\":9080,\"journal\":{\"name\":\"BMJ Case Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.6000,\"publicationDate\":\"2024-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"BMJ Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1136/bcr-2024-259792\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"BMJ Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1136/bcr-2024-259792","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
Novel, likely pathogenic variant in ATP7A associated with Menkes disease diagnosed with ultrarapid genome sequencing.
Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, 'kinky' hair, connective tissue dysfunction and developmental regression after 2-3 months of age. The primary variant associated with Menkes is in the ATP7A gene with X-linked recessive inheritance. Historically, the diagnosis of Menkes has relied on clinical signs and symptoms, but as the disease has varying levels of severity and presentation, it can take months to diagnose and treat. Emerging technology for ultrarapid genome sequencing offers a DNA-based route of diagnosis with preliminary results in hours, allowing for earlier discovery and treatment of Menkes with the potential for better long-term outcomes. Ultrarapid whole genome sequencing identified a novel, likely pathogenic, frameshift variant in the ATP7A gene consistent with a diagnosis of Menkes disease. The clinical manifestations and pathophysiology of this disorder, as well as a rapid DNA-based diagnosis, are described in this case.
期刊介绍:
BMJ Case Reports is an important educational resource offering a high volume of cases in all disciplines so that healthcare professionals, researchers and others can easily find clinically important information on common and rare conditions. All articles are peer reviewed and copy edited before publication. BMJ Case Reports is not an edition or supplement of the BMJ.