Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome.
Journal of Investigative Dermatology. 2008-02-01; 128(2): 322-325
DOI: 10.1038/sj.jid.5700987
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1. J Invest Dermatol. 2008 Feb;128(2):322-5. Epub 2007 Oct 18.
Detection of an intragenic deletion expands the spectrum of CTSC mutations in
Papillon-Lefèvre syndrome.
Jouary T(1), Goizet C, Coupry I, Redonnet-Vernhet I, Levade T, Burgelin I,
Toutain A, Delaporte E, Douillard C, Lacombe D, Taieb A, Arveiler B.
Author information:
(1)Département de Dermatologie, Hôpital Saint André, Bordeaux, France.
The Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder. The gene
responsible for the disease, cathepsin C (CTSC), is localized in 11q14.1-q14.21.
We performed mutational and functional analyses of CTSC in two patients affected
by this condition. Three previously unreported CTSC mutations were identified.
The first patient had a compound heterozygous status with a p.G386R missense
mutation and an intragenic deletion spanning exons 3-7. Second patient carried a
homozygous splice site mutation, p.A253SfsX30. CTSC activity was undetectable in
both patients, thus demonstrating the pathological effect of these mutations. We
describe early evidence of an original intragenic deletion reported in PLS. Since
this mutational mechanism could not be detected by direct sequencing, intragenic
deletion has to be specifically investigated using gene dosage analysis
techniques such as quantitative multiplex fluorescent polymerase chain reaction.
We consider that this technique should be performed in patients with apparently
homozygous CTSC mutations when one parent does not carry the expected mutation or
is not available for analysis.
DOI: 10.1038/sj.jid.5700987
PMID: 17943190 [Indexed for MEDLINE]