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Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin, Nadja; Hotz, Alrun; Bourrat, Emmanuelle; Küsel, Julia; Oji, Vinzenz; Bouadjar, Bakar; Brognoli, Davide; Hickman, Geoffroy; Heinz, Lisa; Vabres, Pierre; Marrakchi, Slaheddine; Leclerc-Mercier, Stéphanie; Irvine, Alan; Tadini, Gianluca; Hamm, Henning; Has, Cristina; Blume-Peytavi, Ulrike; Mitter, Diana; Reitenbach, Marina; Hausser, Ingrid; Zimmer, Andreas D; Alter, Svenja; Fischer, Judith.
Afiliação
  • Ballin N; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Hotz A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Bourrat E; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, Paris, France.
  • Küsel J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Oji V; Department of Dermatology, University Hospital, Münster, Germany.
  • Bouadjar B; Department of Dermatology, CHU of Bab-El-Oued Algiers, Algeria.
  • Brognoli D; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, Paris, France.
  • Hickman G; Department of Dermatology, Reference Center for Rare Skin Diseases MAGEC, Saint Louis Hospital AP-HP, Paris, France.
  • Heinz L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Vabres P; Competence Centre for Rare Skin Diseases, Dermatology Department, CHU Dijon, Dijon, France.
  • Marrakchi S; Department of Dermatology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia.
  • Leclerc-Mercier S; Department of Pathology and Dermatology and MAGEC Reference Center for Rare Skin Diseases, Hopital Necker-Enfants Malades, Paris, France.
  • Irvine A; Department of Clinical Medicine Trinity College Dublin, Our Lady's Children's Hospital, National Children's Research Centre, Dublin, Ireland.
  • Tadini G; Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Hamm H; Department of Dermatology, Venerology, and Allergology, University Hospital Wuerzburg, Wuerzburg, Germany.
  • Has C; Department of Dermatology and Venerology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Blume-Peytavi U; Department of Dermatology, Venereology, and Allergology, Charité Berlin, Berlin, Germany.
  • Mitter D; MedVZ Leipzig, University Hospital Leipzig, Leipzig, Germany.
  • Reitenbach M; Medical Practice for Paediatrics, Lengerich, Germany.
  • Hausser I; Institute of Pathology, Heidelberg University Hospital, Heidelberg, Germany.
  • Zimmer AD; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Alter S; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
  • Fischer J; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Hum Mutat ; 40(12): 2318-2333, 2019 12.
Article em En | MEDLINE | ID: mdl-31347739
Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI. NIPAL4 (Nipa-Like Domain-Containing 4) is the second most commonly mutated gene in ARCI. In this study, we present a large cohort of 101 families affected with ARCI carrying mutations in NIPAL4. We identified 16 novel mutations and increase the total number of pathogenic mutations in NIPAL4 to 34. Ultrastructural analysis of biopsies from six patients showed morphological abnormalities consistent with an ARCI EM type III. One patient with a homozygous splice site mutation, which leads to a loss of NIPAL4 mRNA, showed additional ultrastructural aberrations together with a more severe clinical phenotype. Our study gives insights into the frequency of mutations, a potential hot spot for mutations, and genotype-phenotype correlations.
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Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Receptores de Superfície Celular / Ictiose / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Receptores de Superfície Celular / Ictiose / Mutação Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha