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Case Reports
. 2010 Aug;24(8):967-9.
doi: 10.1111/j.1468-3083.2010.03575.x. Epub 2010 Mar 4.

A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome

M Kurban  1 , T Cheng, M Wajid, M Kiuru, Y Shimomura, A M Christiano
Affiliations
Case Reports

A novel mutation in the cathepsin C gene in a Pakistani family with Papillon-Lefevre syndrome

M Kurban et al. J Eur Acad Dermatol Venereol. 2010 Aug.

Abstract

Background: Papillon-Lefevre syndrome (PLS; OMlM 245000) is an autosomal recessive disease caused by mutations in cathepsin C (CTSC) gene and is characterized by palmoplantar keratoderma, psoriasiform lesion over the extensor surfaces and gingivitis followed by loss of teeth. CTSC gene is expressed in several tissues including the skin and cells of the immune system. In the skin, CTSC plays a role in differentiation and desquamation, whereas in the immune system, it activates serine proteases.

Objectives: We analysed the molecular basis of PLS in a Pakistani family.

Methods: Genomic DNA was isolated from the sample according to standard techniques. All exons of the CTSC gene with adjacent sequences of exon-intron borders were amplified by PCR and directly sequenced.

Results: We identified a novel deletion mutation designated c.2ldelG (Leu7PhefsX57) in exon 1 of the CTSC gene, which probably results in the absence of CTSC protein.

Conclusion: Our data further expand the spectrum of mutations in the CTSC gene underlying PLS.

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Figures

Figure1
Figure1
CTSC gene consists of 7 exons and 463 codons. To date, 55 different mutations have been detected in the Cathepsin C gene. (The numbers in the boxes indicate exons and numbers outside the boxes indicates introns. Red color indicates the region containing the signal peptide. The blue color indicates the dipeptidyl-peptidase 1 exclusion domain chain containing region. The white color indicates the propeptide chain region. The green color indicates the dipeptidyl-peptidase 1 heavy chain containing region. The yellow color indicates the dipeptidyl-peptidase 1 light chain containing region).
Figure2
Figure2
a,b) Palmoplantar keratoderma affecting mainly the pressure regions in a man with PLS. c) Prominent tooth loss secondary to gingivitis occurring at 14 years of age. d) A deletion mutation designated c.21delG (p.Leu7PhefsX57) in the CTSC gene in the affected individual. The deleted nucleotide is boxed.
See this image and copyright information in PMC

References

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