Linked Life Data

10593994

Source:http://linkedlifedata.com/resource/pubmed/id/10593994

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2000-1-7
pubmed:abstractText
Papillon-Lefèvre syndrome (PLS) is an autosomal recessive disorder characterised by palmoplantar hyperkeratosis and severe early onset periodontitis that results in the premature loss of the primary and secondary dentitions. A major gene locus for PLS has been mapped to a 2.8 cM interval on chromosome 11q14. Correlation of physical and genetic maps of this interval indicate it includes at least 40 ESTs and six known genes including the lysosomal protease cathepsin C gene (CTSC). The CTSC message is expressed at high levels in a variety of immune cells including polymorphonuclear leucocytes, macrophages, and their precursors. By RT-PCR, we found CTSC is also expressed in epithelial regions commonly affected by PLS, including the palms, soles, knees, and oral keratinised gingiva. The 4.7 kb CTSC gene consists of two exons. Sequence analysis of CTSC from subjects affected with PLS from five consanguineous Turkish families identified four different mutations. An exon 1 nonsense mutation (856C-->T) introduces a premature stop codon at amino acid 286. Three exon 2 mutations were identified, including a single nucleotide deletion (2692delA) of codon 349 introducing a frameshift and premature termination codon, a 2 bp deletion (2673-2674delCT) that results in introduction of a stop codon at amino acid 343, and a G-->A substitution in codon 429 (2931G-->A) introducing a premature termination codon. All PLS patients were homozygous for cathepsin C mutations inherited from a common ancestor. Parents and sibs heterozygous for cathepsin C mutations do not show either the palmoplantar hyperkeratosis or severe early onset periodontitis characteristic of PLS. A more complete understanding of the functional physiology of cathepsin C carries significant implications for understanding normal and abnormal skin development and periodontal disease susceptibility.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-14244097, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-14252683, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-1446079, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-159254, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-1759556, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-7649281, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-7665576, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-8651714, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-8794974, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-8959572, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9092576, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9099719, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9130590, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9272739, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9439671, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9673173, http://linkedlifedata.com/resource/pubmed/commentcorrection/10593994-9741471
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
36
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
881-7
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1999
pubmed:articleTitle
Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.
pubmed:affiliation
Department of Pediatrics, Section of Medical Genetics, Wake Forest University School of Medicine, Winston Salem, North Carolina, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S.