Mutation analysis of the cathepsin C gene in Indian families with Papillon-Lefèvre syndrome
نویسندگان
چکیده
منابع مشابه
Evidence for a founder mutation in the cathepsin C gene in three families with Papillon-Lefèvre syndrome.
BACKGROUND Papillon-Lefèvre syndrome (PLS; OMIM 245000) is a rare autosomal recessive disorder. Clinically, PLS is characterized by hyperkeratosis involving the palms, soles, elbows and knees which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. METHODS We analyzed...
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 کاملPapillon-Lefèvre syndrome.
Papillon- Lefèvre syndrome (PLS) is a rare autosomal recessive disorder of keratinization characterized by palmoplantar hyperkeratosis, periodontopathy and precocious loss of dentition. The exact pathomechanism of these clinical events mainly remains speculative. This paper describes two cases of PLS with classic clinical features and briefly review the relevant literature.
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2003
ISSN: 1471-2350
DOI: 10.1186/1471-2350-4-5