Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene

Details

Serval ID
serval:BIB_BD1FFC809CC3
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene
Journal
Prenatal Diagnosis
Author(s)
Schorderet  D. F., Huber  M., Laurini  R. N., Von Moos  G., Gianadda  B., Deleze  G., Hohl  D.
ISSN
0197-3851 (Print)
Publication state
Published
Issued date
05/1997
Volume
17
Number
5
Pages
483-6
Notes
Case Reports
Journal Article --- Old month value: May
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.
Keywords
Chorionic Villi Sampling Humans Ichthyosis, Lamellar/*diagnosis Infant, Newborn Keratinocytes/*enzymology Male *Point Mutation Polymerase Chain Reaction *Prenatal Diagnosis Transglutaminases/*genetics
Pubmed
Web of science
Create date
28/01/2008 12:59
Last modification date
20/08/2019 15:31
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