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✦   LIBER   ✦

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

✍ Scribed by DANIEL F. SCHORDERET; MARCEL HUBER; RICHARD N. LAURINI; GENEVIGÈVE VON MOOS; BERNARD GIANADDA; GUY DÉLÈZE; DANIEL HOHL

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
713 KB
Volume
17
Category
Article
ISSN
0197-3851

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✦ Synopsis

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

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