title: Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24.
abstract: BACKGROUND
  The identification of the molecular basis of disorders of keratinisation has significantly advanced our understanding of skin biology, revealing new information on key structures in the skin, such as the intermediate filaments, desmosomes, and gap junctions. Among these disorders, there is an extraordinarily heterogeneous group known as palmoplantar keratodermas (PPK), for which only a few molecular defects have been described. A particular form of PPK, known as punctate PPK, has been described in a few large autosomal dominant pedigrees, but its genetic basis has yet to be identified.
  
  
  OBJECTIVE
  Identification of the gene for punctate PPK.
  
  
  METHODS
  Clinical examination and linkage analysis in three families with punctate PPK.
  
  
  RESULTS
  A genomewide scan was performed on an extended autosomal dominant pedigree, and linkage to chromosome 15q22-q24 was identified. With the addition of two new families with the same phenotype, we confirmed the mapping of the locus for punctate PPK to a 9.98 cM interval, flanked by markers D15S534 and D15S818 (maximum two point lod score of 4.93 at theta = 0 for marker D15S988).
  
  
  CONCLUSIONS
  We report the clinical and genetic findings in three pedigrees with the punctate form of PPK. We have mapped a genetic locus for this phenotype to chromosome 15q22-q24, which indicates the identification of a new gene involved in skin integrity.
authors.affiliation: Department of Dermatology, Columbia University, New York, NY 10032, USA.
authors.forename: A
authors.initials: A
authors.lastname: Martinez-Mir
authors.forename: A
authors.initials: A
authors.lastname: Zlotogorski
authors.forename: D
authors.initials: D
authors.lastname: Londono
authors.forename: D
authors.initials: D
authors.lastname: Gordon
authors.forename: A
authors.initials: A
authors.lastname: Grunn
authors.forename: E
authors.initials: E
authors.lastname: Uribe
authors.forename: L
authors.initials: L
authors.lastname: Horev
authors.forename: I M
authors.initials: IM
authors.lastname: Ruiz
authors.forename: N O
authors.initials: NO
authors.lastname: Davalos
authors.forename: O
authors.initials: O
authors.lastname: Alayan
authors.forename: J
authors.initials: J
authors.lastname: Liu
authors.forename: T C
authors.initials: TC
authors.lastname: Gilliam
authors.forename: J C
authors.initials: JC
authors.lastname: Salas-Alanis
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
mesh_terms: D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree; D010641:Phenotype