Athanasios Gatsis, Maria Alvanou, Elisavet Christidou, E. Demertzidou, Aggeliki Kontou, T. Stathopoulou, K. Sarafidis, Alexandros Sotiriadis, A. Ververi
{"title":"Kabuki Syndrome: Case Report of Severe Prenatal Midface Hypoplasia (Binder Phenotype), due to a Novel Variant in the KMT2D Gene","authors":"Athanasios Gatsis, Maria Alvanou, Elisavet Christidou, E. Demertzidou, Aggeliki Kontou, T. Stathopoulou, K. Sarafidis, Alexandros Sotiriadis, A. Ververi","doi":"10.1159/000540088","DOIUrl":null,"url":null,"abstract":"Introduction: Kabuki syndrome (KS) is a rare genetic disorder with a prevalence of 1/86,000–1/32,000. Pathogenic variants in the KMT2D and KDM6A genes are responsible for the majority of KS cases and are inherited in an autosomal dominant and X-linked manner, respectively. Despite KS being genetically pleiotropic, specific phenotypic features, such as hypotonia, developmental disorders, mental retardation, dermatoglyphic and facial abnormalities, are widely manifested among patients with KS. Only few prenatal findings have been associated with KS so far. Case Presentation: This report highlights an interesting and infrequent case of a neonate with severe midface hypoplasia and multiple congenital anomalies, which were noted on the 2nd trimester antenatal scan. The degree of hypoplasia was indicative of chondrodysplasia punctata, but there was no relevant pregnancy history or other features of a skeletal dysplasia. The pregnancy was complicated by preterm premature rupture of membranes. The neonate was born at 27 weeks of gestation and died 16 days later, due to complications of prematurity. Whole exome sequencing identified a novel de novo KMT2D pathogenic variant. Conclusion: Although midface hypoplasia has been previously reported in individuals with KS, the severity noted in the index individual is an unusual feature of the syndrome.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Molecular Syndromology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000540088","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Introduction: Kabuki syndrome (KS) is a rare genetic disorder with a prevalence of 1/86,000–1/32,000. Pathogenic variants in the KMT2D and KDM6A genes are responsible for the majority of KS cases and are inherited in an autosomal dominant and X-linked manner, respectively. Despite KS being genetically pleiotropic, specific phenotypic features, such as hypotonia, developmental disorders, mental retardation, dermatoglyphic and facial abnormalities, are widely manifested among patients with KS. Only few prenatal findings have been associated with KS so far. Case Presentation: This report highlights an interesting and infrequent case of a neonate with severe midface hypoplasia and multiple congenital anomalies, which were noted on the 2nd trimester antenatal scan. The degree of hypoplasia was indicative of chondrodysplasia punctata, but there was no relevant pregnancy history or other features of a skeletal dysplasia. The pregnancy was complicated by preterm premature rupture of membranes. The neonate was born at 27 weeks of gestation and died 16 days later, due to complications of prematurity. Whole exome sequencing identified a novel de novo KMT2D pathogenic variant. Conclusion: Although midface hypoplasia has been previously reported in individuals with KS, the severity noted in the index individual is an unusual feature of the syndrome.
期刊介绍:
''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.