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A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome
Papillon-Lefévre syndrome (PLS; OMIM 245000) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation, causing loss of both the deciduous and permanent teeth. PLS develops due to mutations in the cathepsin C gene, CTSC . Recently w...
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Published in: | Archives of Dermatological Research 2013-07, Vol.305 (5), p.453-455 |
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Main Authors: | , , , , , , , |
Format: | Article |
Language: | English |
Subjects: | |
Citations: | Items that this one cites Items that cite this one |
Online Access: | Get full text |
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Summary: | Papillon-Lefévre syndrome (PLS; OMIM 245000) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation, causing loss of both the deciduous and permanent teeth. PLS develops due to mutations in the cathepsin C gene,
CTSC
. Recently we have identified a Hungarian PLS family with two affected siblings. Direct sequencing of the coding regions of the
CTSC
gene revealed a novel seven-base deletion leading to frameshift and early stop codon in the fourth exon of the
CTSC
gene (c.681delCATACAT, p.T188fsX199). The affected family members carried the mutation in homozygous form, while the clinically unaffected family members carried the mutation in heterozygous form. The unrelated controls carried only the wild type sequence. In this paper we report a novel homozygous deletion of seven bases on the
CTSC
gene leading to the development of PLS. Since consanguineous marriage was unknown in the investigated family, the presence of the homozygous seven-base deletion of the
CTSC
gene may suggest that the parents are close relatives. |
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ISSN: | 0340-3696 1432-069X |
DOI: | 10.1007/s00403-013-1323-z |