J Med Genet 40:872-878 doi:10.1136/jmg.40.12.872
  • Original article

Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22–q24

  1. A Martinez-Mir1,
  2. A Zlotogorski3,
  3. D Londono4,5,
  4. D Gordon4,
  5. A Grunn6,
  6. E Uribe8,
  7. L Horev3,
  8. I M Ruiz8,
  9. N O Davalos8,
  10. O Alayan3,
  11. J Liu6,7,
  12. T C Gilliam6,
  13. J C Salas-Alanis9,
  14. A M Christiano1,2
  1. 1Department of Dermatology, Columbia University, New York, NY, USA
  2. 2Department of Genetics and Development, Columbia University, New York, NY, USA
  3. 3Department of Dermatology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
  4. 4Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA
  5. 5Department of Epidemiology and Biostatistics, Rammelkamp Center for Education and Research, Case Western Reserve University, Cleveland, OH, USA
  6. 6Columbia Genome Center, Columbia University, New York, NY, USA
  7. 7Population Genetics, Genome Institute of Singapore, National University of Singapore, Singapore
  8. 8Hospital General de Occidente Zapopán, Jalisco, México
  9. 9Departamento de Dermatología, Servicio Médico Universidad Autónoma de Nuevo León, Monterrey NL, México
  1. Correspondence to:
 Dr A M Christiano
 Departments of Dermatology and Genetics & Development, Columbia University, College of Physicians & Surgeons, 630 West 168th Street VC-1526, New York, NY 10032, USA;


    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.

    Aim: 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 θ = 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.