{"title":"Two GNPTAB Variations Caused Mucolipidosis II Alpha/Beta in a Chinese Family.","authors":"Jingxin Yang, Chao Liu, Qian Geng, Liyuan Chen, Lei Zhang, Weiqing Wu","doi":"10.1080/15513815.2025.2466057","DOIUrl":null,"url":null,"abstract":"<p><p><b>Introduction:</b> Mucolipidosis II alpha/beta (ML II) is an autosomal recessive disorder with craniofacial dysmorphism and bone deformities. The variants in <i>GNPTAB</i> are associated with ML II. <b>Materials and Methods:</b> A female pediatric patient presented with bone deformities, mental and motor developmental abnormalities and craniofacial dysmorphism. We performed clinical whole-exome sequencing (WES) and verified the variants <i>via</i> qPCR, gap-PCR and Sanger sequencing. <b>Results:</b> Clinical WES identified a point variant c.1090C > T (p.R364*) and a copy number variation (CNV) in <i>GNPTAB</i>. Compared with normal control, <i>GNPTAB</i> expression was reduced in blood of the proband. Using Gap-PCR and Sanger sequencing, we identified the break point of CNV (NC_000012.11:g.102136912_102142973del), and successfully performed prenatal diagnosis for the proband's mother. <b>Conclusion:</b> To our knowledge, this is the first report of this novel CNV associated with ML II. Our findings expand the genotypes related to ML II and contribute to the gene diagnosis of ML II.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-9"},"PeriodicalIF":0.7000,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2025.2466057","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Mucolipidosis II alpha/beta (ML II) is an autosomal recessive disorder with craniofacial dysmorphism and bone deformities. The variants in GNPTAB are associated with ML II. Materials and Methods: A female pediatric patient presented with bone deformities, mental and motor developmental abnormalities and craniofacial dysmorphism. We performed clinical whole-exome sequencing (WES) and verified the variants via qPCR, gap-PCR and Sanger sequencing. Results: Clinical WES identified a point variant c.1090C > T (p.R364*) and a copy number variation (CNV) in GNPTAB. Compared with normal control, GNPTAB expression was reduced in blood of the proband. Using Gap-PCR and Sanger sequencing, we identified the break point of CNV (NC_000012.11:g.102136912_102142973del), and successfully performed prenatal diagnosis for the proband's mother. Conclusion: To our knowledge, this is the first report of this novel CNV associated with ML II. Our findings expand the genotypes related to ML II and contribute to the gene diagnosis of ML II.
期刊介绍:
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.