Molecular genetics and metabolism最新文献

{"title":"Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States","authors":"Eric T. Rush ,&nbsp;Guillermo del Angel ,&nbsp;Juan Dong ,&nbsp;Toby Bates ,&nbsp;Robert D. Steiner ,&nbsp;Allison Cox","doi":"10.1016/j.ymgme.2025.109046","DOIUrl":"10.1016/j.ymgme.2025.109046","url":null,"abstract":"<div><div>Hypophosphatasia (HPP) is a rare metabolic disease resulting from variants in <em>ALPL</em>, inherited in an either autosomal recessive or autosomal dominant manner. Sponsored clinical <em>ALPL</em> testing was offered in the US for individuals with a clinical suspicion of HPP. Gene variants were assessed to determine the likelihood of identifying disease-causing variants, uncover genotype–phenotype relationships, and for further understanding of <em>ALPL</em> variants in the US HPP population. Variants were detected by Sanger sequencing and classified as pathogenic or likely pathogenic (P/LP; positive test result), variant(s) of uncertain significance (indeterminate test result), benign or likely benign (negative test result), or no variants (negative test result). Clinical signs/symptoms, age, sex, and family history data were voluntarily reported by participating clinicians and were explored for possible association with the test result. Of 1103 individuals tested, results were positive in 40 %, indeterminate in 5 %, and negative in 55 %. Most positive tests were monoallelic P/LP variants (<em>n</em> = 413). The most frequently identified P/LP variants were c.1133A &gt; T/p.Asp378Val (<em>n</em> = 61), c.571G &gt; A/p.Glu191Lys (<em>n</em> = 47), and c.1250A &gt; G/p.Asn417Ser (<em>n</em> = 44). In total, 23 novel <em>ALPL</em> variants were identified, of which 43 % were P/LP and the most frequent type was missense (74 %). Among the 25 % of participants for whom signs/symptoms were reported, a significant association was observed for those with a family history of HPP signs/symptoms and a positive test result. These data contribute important information on the likelihood of disease-causing <em>ALPL</em> variants in individuals with clinical signs/symptoms of HPP, the importance of family history in HPP testing, distribution of <em>ALPL</em> variants, and identification of novel <em>ALPL</em> variants.</div></div>","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 3","pages":"Article 109046"},"PeriodicalIF":3.7,"publicationDate":"2025-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143444346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Imaging improvement in acid sphingomyelinase deficiency on enzyme replacement therapy.","authors":"William L Simpson, Jaya Ganesh","doi":"10.1016/j.ymgme.2024.108611","DOIUrl":"10.1016/j.ymgme.2024.108611","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":" ","pages":"108611"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142687522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effective coordination of family screening to facilitate early diagnosis of Fabry disease","authors":"Claudia L. Church Smith ,&nbsp;Sarah J. Steeds ,&nbsp;Natalie Tuzcuoglu ,&nbsp;Christopher J. Wingrove ,&nbsp;Laura A. Boyes ,&nbsp;Katherine Aitchison ,&nbsp;Claire Radford ,&nbsp;Tarekegn Geberhiwot ,&nbsp;Rick Steeds","doi":"10.1016/j.ymgme.2024.108682","DOIUrl":"10.1016/j.ymgme.2024.108682","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108682"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143127828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic and genotypic expansion of mucopolysaccharidosis type II: A case with IDS c.817C > T variant detected through newborn screening","authors":"Eliane Beauregard-Lacroix,&nbsp;Madeline Steffensen,&nbsp;Caitlin Menello,&nbsp;Can Ficicioglu","doi":"10.1016/j.ymgme.2024.108652","DOIUrl":"10.1016/j.ymgme.2024.108652","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108652"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Imaging flow cytometry (IFC) a novel tool for automated and standardized quantification of urine podocytes and their globotriaosylceramide (GL3) content in Fabry disease","authors":"Alireza Ayoubi,&nbsp;Frank Dastvan,&nbsp;Behzad Najafian","doi":"10.1016/j.ymgme.2024.108646","DOIUrl":"10.1016/j.ymgme.2024.108646","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108646"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143171891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long term follow up of bone mineral density in Egyptian Gaucher disease type 3 patients on enzyme replacement therapy","authors":"Magy Abdelwahab","doi":"10.1016/j.ymgme.2024.108628","DOIUrl":"10.1016/j.ymgme.2024.108628","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108628"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172949","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AAV9-based gene replacement therapy targeting the root cause for the treatment of MPS IIID in mice","authors":"Pratikshya Adhikari,&nbsp;Neil Sud,&nbsp;Tierra Bobo,&nbsp;Haiyan Fu","doi":"10.1016/j.ymgme.2024.108631","DOIUrl":"10.1016/j.ymgme.2024.108631","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108631"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143172951","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of potential drug development and therapeutic approaches for mucopolysaccharidosis type II","authors":"Chong Kun Cheon,&nbsp;Jin Hur,&nbsp;Soo Yong Lee","doi":"10.1016/j.ymgme.2024.108680","DOIUrl":"10.1016/j.ymgme.2024.108680","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108680"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurodevelopmental benefits of early hematopoietic stem cell transplantation in mucopolysaccharidosis type II","authors":"John W. Collyer ,&nbsp;Deepa Rajan ,&nbsp;Michele Poe ,&nbsp;Paul Szabolcs ,&nbsp;Maria L. Escolar","doi":"10.1016/j.ymgme.2024.108688","DOIUrl":"10.1016/j.ymgme.2024.108688","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108688"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dissecting the role of oligodendroglial NFkB signaling in the pathogenesis of Krabbe disease","authors":"Jacob Favret,&nbsp;Meghana Kushawa,&nbsp;Daesung Shin","doi":"10.1016/j.ymgme.2024.108716","DOIUrl":"10.1016/j.ymgme.2024.108716","url":null,"abstract":"","PeriodicalId":18937,"journal":{"name":"Molecular genetics and metabolism","volume":"144 2","pages":"Article 108716"},"PeriodicalIF":3.7,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143173720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}