Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-08-23

AUTHORS

Nuria C. Bramswig, Aida M. Bertoli-Avella, Beate Albrecht, Aida I. Al Aqeel, Amal Alhashem, Nouriya Al-Sannaa, Maissa Bah, Katharina Bröhl, Christel Depienne, Nathalie Dorison, Diane Doummar, Nadja Ehmke, Hasnaa M. Elbendary, Svetlana Gorokhova, Delphine Héron, Denise Horn, Kiely James, Boris Keren, Alma Kuechler, Samira Ismail, Mahmoud Y. Issa, Isabelle Marey, Michèle Mayer, Jennifer McEvoy-Venneri, Andre Megarbane, Cyril Mignot, Sarar Mohamed, Caroline Nava, Nicole Philip, Cecile Ravix, Arndt Rolfs, Abdelrahim Abdrabou Sadek, Lara Segebrecht, Valentina Stanley, Camille Trautman, Stephanie Valence, Laurent Villard, Thomas Wieland, Hartmut Engels, Tim M. Strom, Maha S. Zaki, Joseph G. Gleeson, Hermann-Josef Lüdecke, Peter Bauer, Dagmar Wieczorek

ABSTRACT

NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the “NALCN channelosome”, consisting of multiple proteins including UNC80 and UNC79. The predominant neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far, biallelic NALCN and UNC80 variants have been described in a small number of individuals leading to infantile hypotonia, psychomotor retardation, and characteristic facies 1 (IHPRF1, OMIM 615419) and 2 (IHPRF2, OMIM 616801), respectively. Heterozygous de novo NALCN missense variants in the S5/S6 pore-forming segments lead to congenital contractures of the limbs and face, hypotonia, and developmental delay (CLIFAHDD, OMIM 616266) with some clinical overlap. In this study, we present detailed clinical information of 16 novel individuals with biallelic NALCN variants, 1 individual with a heterozygous de novo NALCN missense variant and an interesting clinical phenotype without contractures, and 12 individuals with biallelic UNC80 variants. We report for the first time a missense NALCN variant located in the predicted S6 pore-forming unit inherited in an autosomal-recessive manner leading to mild IHPRF1. We show evidence of clinical variability, especially among IHPRF1-affected individuals, and discuss differences between the IHPRF1- and IHPRF2 phenotypes. In summary, we provide a comprehensive overview of IHPRF1 and IHPRF2 phenotypes based on the largest cohort of individuals reported so far and provide additional insights into the clinical phenotypes of these neurodevelopmental diseases to help improve counseling of affected families. More... »

PAGES

753-768

Journal

TITLE

Human Genetics

ISSUE

9

VOLUME

137

Author Affiliations

  • Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr. 55, 45122, Essen, Germany
  • CENTOGENE AG, The Rare Disease Company, Rostock, Germany
  • Alfaisal University, Riyadh, Saudi Arabia
  • Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
  • John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia
  • Groupe de Recherche Clinique sorbonne Université “Déficiences Intellectuelles et Autisme”, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, AP-HP, Hôpital de la Pitié Salpêtrière, 75013, Paris, France
  • Internal Medicine Department, Waldkrankenhaus Evangelical Hospital, Berlin, Germany
  • Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, and Inserm U 1127, and CNRS UMR 7225, and ICM, 75013, Paris, France
  • Service de Neurochirurgie Pédiatrique, Fondation Ophtalmologique Adolphe de Rothschild, Paris, France
  • AP-HP, Département de neuropédiatrie, GHUEP, Hôpital Armand Trousseau, Paris, France
  • Berlin Institute of Health, Berlin, Germany
  • Human Genetics and Genome Research Division, Clinical Genetics Department, National Research Centre, Cairo, Egypt
  • Aix Marseille Univ, MMG, INSERM, Marseille, France
  • Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany
  • Departments of Neurosciences and Pediatrics, Howard Hughes Medical Institute, University of California San Diego, Rady Children’s Institute for Genomic Medicine, 92093, La Jolla, CA, USA
  • Institut Jerome Lejeune, Paris, France
  • Prince Abdullah bin Khaled Coeliac Disease Research Chair, College of Medicine, King Saud University, Riyadh, Saudi Arabia
  • Albrecht Kossel Institute, University of Rostock, Rostock, Germany
  • Pediatric Neurology Unit, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohâg, Egypt
  • Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
  • Institute of Human Genetics, University of Bonn, School of Medicine and University Hospital Bonn, Bonn, Germany
  • Institute of Human Genetics, Technische Universität München, Munich, Germany
  • Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1007/s00439-018-1929-5

    DOI

    http://dx.doi.org/10.1007/s00439-018-1929-5

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1106343572

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30167850


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