11158173

Source:http://linkedlifedata.com/resource/pubmed/id/11158173

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0030705, umls-concept:C0039082, umls-concept:C0058361, umls-concept:C0242918, umls-concept:C0332120, umls-concept:C0596611, umls-concept:C1413745
pubmed:issue	2
pubmed:dateCreated	2001-2-22
pubmed:abstractText	We describe a mutation and haplotype analysis of Papillon-Lefèvre syndrome probands that provides evidence of a founder effect for four separate cathepsin C mutations. A total of 25 different cathepsin C mutations have been reported in 32 families with Papillon-Lefèvre syndrome (PLS) and associated conditions. A characteristic of these findings is the diversity of different cathepsin C mutations that have been identified. To evaluate the generality of cathepsin C mutations, PLS probands representative of five reportedly unrelated Saudi Arabian families were evaluated by mutational and haplotype analyses. Sequence analysis identified two cathepsin C gene mutations: a novel exon 7 G300D mutation was found in the proband from one family, while probands from four families shared a common R272P mutation in exon 6. The R272P mutation has been previously reported in two other non-Saudi families. The presence of the R272P mutation in probands from these four Saudi families makes this the most frequently reported cathepsin C mutation. To distinguish between the presence of a possible founder effect or a mutational hot spot for the R272P mutation, we performed haplotype analysis using six novel DNA polymorphisms that span a 165 kb interval containing the cathepsin C gene. Results of haplotype analysis for genetic polymorphisms within and flanking the cathepsin C gene are consistent with inheritance of the R272P mutation "identical by descent" from a common ancestor in these four Saudi families. Haplotype analysis of multiple PLS probands homozygous for other cathepsin C mutations (W249X, Q286X, and T153I) also supports inheritance of each of these mutations from common ancestors. These data suggest that four of the more frequently reported cathepsin C mutations have been inherited from common ancestors and provide the first direct evidence for a founder effect for cathepsin C gene mutations in PLS. Identification of these six short tandem repeat polymorphisms that span the cathepsin C gene will permit haplotype analyses to determine other founder haplotypes of cathepsin C mutations in additional PLS families.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/R01-DE12920
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-10581027, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-10593994, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-10723733, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-11106356, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-14244097, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-159254, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-2948927, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-8651714, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-8707975, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-8997649, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9199938, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9272739, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9439671, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9495102, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9722266, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9741471, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9784132, http://linkedlifedata.com/resource/pubmed/commentcorrection/11158173-9862982
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/2985087R
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Cathepsin C, http://linkedlifedata.com/resource/pubmed/chemical/DNA
pubmed:status	MEDLINE
pubmed:month	Feb
pubmed:issn	1468-6244
pubmed:author	pubmed-author:FiratliEE, pubmed-author:GorryM CMC, pubmed-author:HartP SPS, pubmed-author:HartT CTC, pubmed-author:LundgrenTT, pubmed-author:MarkoJ FJF, pubmed-author:RenvertSS, pubmed-author:TatakisD NDN, pubmed-author:UygurCC, pubmed-author:ZhangYY
pubmed:issnType	Electronic
pubmed:volume	38
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	96-101
pubmed:dateRevised	2009-11-19
pubmed:meshHeading	pubmed-meshheading:11158173-Amino Acid Substitution, pubmed-meshheading:11158173-Base Sequence, pubmed-meshheading:11158173-Cathepsin C, pubmed-meshheading:11158173-Chromosomes, Human, Pair 11, pubmed-meshheading:11158173-DNA, pubmed-meshheading:11158173-DNA Mutational Analysis, pubmed-meshheading:11158173-Family Health, pubmed-meshheading:11158173-Founder Effect, pubmed-meshheading:11158173-Haplotypes, pubmed-meshheading:11158173-Humans, pubmed-meshheading:11158173-Microsatellite Repeats, pubmed-meshheading:11158173-Mutation, pubmed-meshheading:11158173-Papillon-Lefevre Disease, pubmed-meshheading:11158173-Point Mutation
pubmed:year	2001
pubmed:articleTitle	Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
pubmed:affiliation	Department of Oral Biology, University of Pittsburgh School of Dental Medicine, 614 Salk Hall, 3501 Terrace Street, Pittsburgh, PA 15261, USA.
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S.