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Letter to the Editor| Volume 55, ISSUE 2, P128-130, August 2009

Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1

  • G. Esposito
    Affiliations
    CEINGE – Biotecnologie Avanzate S.C.a r.l., Naples, Italy

    Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples “Federico II”, Naples, Italy

    IRCCS – Fondazione SDN, via E. Gianturco 113, 80143 Naples, Italy
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  • F. De Falco
    Affiliations
    CEINGE – Biotecnologie Avanzate S.C.a r.l., Naples, Italy

    Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples “Federico II”, Naples, Italy
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  • V. Brazzelli
    Affiliations
    Clinica Dermatologica, University of Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy
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  • L. Montanari
    Affiliations
    Clinica Ostetrica e Ginecologica University of Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy
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  • D. Larizza
    Affiliations
    Dipartimento di Scienze Pediatriche University of Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy
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  • F. Salvatore
    Correspondence
    Corresponding author at: Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples “Federico II”, Naples, Italy. Tel.: +39 0817464966; fax: +39 0817463650.
    Affiliations
    CEINGE – Biotecnologie Avanzate S.C.a r.l., Naples, Italy

    Dipartimento di Biochimica e Biotecnologie Mediche, University of Naples “Federico II”, Naples, Italy

    IRCCS – Fondazione SDN, via E. Gianturco 113, 80143 Naples, Italy
    Search for articles by this author
Published:July 12, 2010DOI:https://doi.org/10.1016/j.jdermsci.2009.05.002
Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1
Previous ArticleA novel U2HR non-synonymous mutation in a Chinese patient with Marie Unna Hereditary Hypotrichosis
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      Autosomal recessive congenital ichthyosis (ARCI) is a rare (1:100,000–250,000), clinically and genetically heterogeneous group of cornification diseases. Phenotypes vary from severe lamellar ichthyosis (LI) to mild non-bullous congenital ichthyosiform erythroderma (NBCIE). Approximately 55% of ARCI patients have complete or partial transglutaminase 1 (TGase1) deficiency due to germline mutations in the TGM1 gene [
      • Farasat S.
      • Wei M.-H.
      • Liewehr D.
      • Herman M.
      • Liewehr D.J.
      • Steinberg S.M.
      • et al.
      Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the United States.
      J Med Genet. 2009; 46: 103-111
      ]. TGase1 cross-links several precursor proteins (e.g., involucrin) and hydroxyceramides to form the cornified cell envelope. Over 100 different ARCI-mutations have been identified in TGM1, on chromosome 14q11.2, and these are more often associated with LI than NBCIE [
      • Farasat S.
      • Wei M.-H.
      • Liewehr D.
      • Herman M.
      • Liewehr D.J.
      • Steinberg S.M.
      • et al.
      Novel transglutaminase-1 mutations and genotype–phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the United States.
      J Med Genet. 2009; 46: 103-111
      ].

      Keywords

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      Article info

      Publication history

      Published online: July 12, 2010
      Received: March 31, 2009

      Identification

      DOI: https://doi.org/10.1016/j.jdermsci.2009.05.002

      Copyright

      © 2009 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.

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