Short Communication

PRENATAL DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE

  1. DANIEL F. SCHORDERET1,*,
  2. MARCEL HUBER2,
  3. RICHARD N. LAURINI3,
  4. GENEVIGÈVE VON MOOS4,
  5. BERNARD GIANADDA5,
  6. GUY DÉLÈZE5,
  7. DANIEL HOHL2

Article first published online: 28 APR 1999

DOI: 10.1002/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4

Issue

Prenatal Diagnosis

Prenatal Diagnosis

Volume 17, Issue 5, pages 483–486, May 1997

Additional Information

How to Cite

SCHORDERET, D. F., HUBER, M., LAURINI, R. N., VON MOOS, G., GIANADDA, B., DÉLÈZE, G. and HOHL, D. (1997), PRENATAL DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE. Prenat. Diagn., 17: 483–486. doi: 10.1002/(SICI)1097-0223(199705)17:5<483::AID-PD80>3.0.CO;2-4

Author Information

  1. 1

    Unit of Molecular Genetics and Division of Medical Genetics, CHUV, 1011 Lausanne, Switzerland

  2. 2

    Department of Dermatology, CHUV, 1011 Lausanne, Switzerland

  3. 3

    Institute of Pathology, CHUV, 1011 Lausanne, Switzerland

  4. 4

    Gynaecologist in Practice, 1950 Sion, Switzerland

  5. 5

    Department of Paediatrics, Hôpital de Sion, 1950 Sion, Switzerland

*Unit of Molecular Genetics, CHUV, CH-1011 Lausanne, Switzerland

Publication History

  1. Issue published online: 28 APR 1999
  2. Article first published online: 28 APR 1999
  3. Manuscript Accepted: 29 NOV 1996
  4. Manuscript Revised: 14 NOV 1996
  5. Manuscript Received: 25 JUL 1996

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Keywords:

  • lamellar ichthyosis;
  • prenatal diagnosis;
  • DNA

Abstract

Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based on a simple polymerase chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin. © 1997 John Wiley & Sons, Ltd.

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