Genetics in Medicine Open最新文献

{"title":"P016: Acute arrhythmias in a long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) mouse model","authors":"Gabriela Elizondo , Arianna Scalco , Garen Gaston , Beth Habecker , Melanie Gillingham","doi":"10.1016/j.gimo.2025.102860","DOIUrl":"10.1016/j.gimo.2025.102860","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102860"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143637052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P057: Reducing the false positive for guanidinoacetate methyltransferase enzyme deficiency in newborns by the addition of a second tier UPLC-MS/MS test","authors":"Jun Qiang Zhou , Kuldeep Dhillon , Jeffrey Aduviso , Long Nguyen , Alexander Cruz , Daniel Simon , Jamie Matteson , Sarah Carter , Tracey Bishop , Rajesh Sharma","doi":"10.1016/j.gimo.2025.102901","DOIUrl":"10.1016/j.gimo.2025.102901","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102901"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143637057","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autosomal dominant HK1-related neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA): An emerging mitochondrial disorder","authors":"Bobby G. Ng ,&nbsp;Erik A. Eklund ,&nbsp;Jill A. Rosenfeld ,&nbsp;Abdallah F. Elias ,&nbsp;Aya Abu-El-Haija ,&nbsp;Celine Bris ,&nbsp;Magalie Barth ,&nbsp;Jong-Hee Chae ,&nbsp;Murim Choi ,&nbsp;Holly A. Dubbs ,&nbsp;Carl Fratter ,&nbsp;Nicola Foulds ,&nbsp;Candace Gamble ,&nbsp;Ralitza H. Gavrilova ,&nbsp;Jaclyn Haven ,&nbsp;Trevor L. Hoffman ,&nbsp;Jill V. Hunter ,&nbsp;Austin Larson ,&nbsp;Timothy Edward Lotze ,&nbsp;Pilar Magoulas ,&nbsp;Volkan Okur","doi":"10.1016/j.gimo.2025.103425","DOIUrl":"10.1016/j.gimo.2025.103425","url":null,"abstract":"<div><h3>Purpose</h3><div>Hexokinase 1 (<em>HK1</em>) encodes a ubiquitously expressed hexokinase, which is responsible for the first step of glycolysis, phosphorylation of glucose to glucose-6-phosphate. Both autosomal recessive and dominant variants in this gene have previously been shown to cause human disease, and presently, there are clinical data available for 27 individuals with the monoallelic neurodevelopmental disorder with visual defects and brain anomalies. Delineation of the entire phenotypic spectrum and genotype-phenotype relations will aid in management and counseling decisions.</div></div><div><h3>Methods</h3><div>We present molecular and clinical data on 22 additional individuals with heterozygous, mostly de novo, variants in <em>HK1</em>. We also reviewed data from the published literature.</div></div><div><h3>Results</h3><div>The clinical manifestations of neurodevelopmental disorder with visual defects and brain anomalies include varying degrees of intellectual disability/developmental delay, hypotonia, epileptic encephalopathy, visual deficits, a Leigh syndrome spectrum pattern on brain magnetic resonance imaging, and elevated lactate in blood and cerebrospinal fluid, suggesting mitochondrial dysfunction. Based on severity, individuals can be classified into mild, moderate, severe, or lethal forms. In terms of genotype-phenotype correlation, we find that all individuals carrying a missense variant at the threonine 457 residue have severe clinical features.</div></div><div><h3>Conclusion</h3><div><em>HK1</em> should be included in mitochondrial disorder gene sequencing panels.</div></div>","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 103425"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143916884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"34: A new and efficient analysis and reporting workflow for hematological malignancies","authors":"Benjamin Clifford,&nbsp;Trilochan Sahoo,&nbsp;Jennifer Hauenstein,&nbsp;Jenna Finley,&nbsp;Andy Wing Chun Pang,&nbsp;Alex R. Hastie","doi":"10.1016/j.gimo.2024.101951","DOIUrl":"10.1016/j.gimo.2024.101951","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 101951"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143561845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P010: Assessment of gestational age and birthweight in patients with metabolic conditions included in CLIR","authors":"Kathleen Renna ,&nbsp;Patricia Hall ,&nbsp;Tina Cowan ,&nbsp;Christina Tise ,&nbsp;Annie Niehaus","doi":"10.1016/j.gimo.2025.102854","DOIUrl":"10.1016/j.gimo.2025.102854","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102854"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P026: Interim analysis of the efficacy and safety of weekly intravenous tividenofusp alfa in mucopolysaccharidosis type II: A phase 1/2 study","authors":"Barbara Burton ,&nbsp;Joseph Muenzer ,&nbsp;Paul Harmatz ,&nbsp;Deepa Rajan ,&nbsp;Simon Jones ,&nbsp;Johanna van den Hout ,&nbsp;John Mitchell ,&nbsp;Matthew Troyer ,&nbsp;Natalie Engmann ,&nbsp;Rupa Caprihan ,&nbsp;Akhil Bhalla ,&nbsp;Imanol Zubizarreta ,&nbsp;Arlette Weichert ,&nbsp;Peter Chin ,&nbsp;Carole Ho","doi":"10.1016/j.gimo.2025.102870","DOIUrl":"10.1016/j.gimo.2025.102870","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102870"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P030: Update from PHEFREE: The National Institutes of Health Rare Disease Consortium for Hyperphenylalaninemia","authors":"Georgianne Arnold ,&nbsp;Hadley Morotti ,&nbsp;Gerard Berry ,&nbsp;Shawn Christ ,&nbsp;Dorothy Grange ,&nbsp;Cary Harding ,&nbsp;Elaina Jurecki ,&nbsp;Uta Lichter-Konecki ,&nbsp;Harvey Levy ,&nbsp;Nicola Longo ,&nbsp;Stephanie Sacharow ,&nbsp;Brian Shayota ,&nbsp;Janet Thomas ,&nbsp;Desiree White","doi":"10.1016/j.gimo.2025.102874","DOIUrl":"10.1016/j.gimo.2025.102874","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102874"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P039: Neuropsychiatric symptom burden of cerebrotendinous xanthomatosis, the importance of diagnosing early, and the impact of CDCA treatment: A US-based survey","authors":"Florian Eichler ,&nbsp;Christie Higuera ,&nbsp;Brian Wishart ,&nbsp;Bobbi Blanchard ,&nbsp;George Bryce ,&nbsp;Neel Odedara ,&nbsp;Shawn Laurie ,&nbsp;Rana Dutta ,&nbsp;Jolan Terner-Rosenthal ,&nbsp;Raul Aguilar ,&nbsp;Tiziano Pramparo ,&nbsp;Pamela Vig ,&nbsp;Jean Pickford","doi":"10.1016/j.gimo.2025.102883","DOIUrl":"10.1016/j.gimo.2025.102883","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102883"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P087: Response to ketone therapy in an unusual case of type 1 multiple Acyl-CoA dehydrogenase deficiency","authors":"Grace Raines ,&nbsp;Caterina Abdala Villa ,&nbsp;Kristen Linscott ,&nbsp;Daniel Sharer ,&nbsp;Pongtawat Lertwilaiwittaya ,&nbsp;Nathaniel Robin ,&nbsp;Alicia Roberts","doi":"10.1016/j.gimo.2025.102931","DOIUrl":"10.1016/j.gimo.2025.102931","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102931"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"P086: Sensorineural hearing loss in a child with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) treated with cochlear implantation","authors":"Michael Finkel ,&nbsp;Kelly Kennelly ,&nbsp;Vinod Misra","doi":"10.1016/j.gimo.2025.102930","DOIUrl":"10.1016/j.gimo.2025.102930","url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102930"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143636608","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}