Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene
نویسندگان
چکیده
منابع مشابه
Original articles Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome
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...
متن کاملMutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome.
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...
متن کاملEvidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefèvre syndrome patients.
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 mutation...
متن کاملHaim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C.
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acro-osteolysis, atrophic changes of the nails, and a ra...
متن کاملOriginal articles Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C
Of the many palmoplantar keratoderma (PPK) conditions, only Papillon-Lefèvre syndrome (PLS) and Haim-Munk syndrome (HMS) are associated with premature periodontal destruction. Although both PLS and HMS share the cardinal features of PPK and severe periodontitis, a number of additional findings are reported in HMS including arachnodactyly, acroosteolysis, atrophic changes of the nails, and a rad...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2001
ISSN: 0022-202X
DOI: 10.1046/j.1523-1747.2001.01244.x