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Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes

Nature Genetics volume 5, pages 158–162 (1993)Cite this article

Abstract

Familial keratosis palmaris et plantaris (KPPF) is characterized by extreme keratinization and desquamation of the skin of the palmar and plantar surfaces of the hands and feet. We have mapped the causative genetic defect to an 8 cM interval on 17q12–24 in or close to the acidic keratin (type I) gene cluster. We show that KPPF co–segregates with a rare, high molecular weight allele of an insertion–deletion polymorphism in the C–terminal coding region of the keratin 10 gene (ẑ = 8.36 at Θ̂ = 0.00) and segregates as a true autosomal dominant trait. Some pedigrees with familial hyperkeratosis of the palms and soles have co–inherited diseases such as congenital malformations and familial cancers. Our analyses provide a region which should be investigated for contiguous gene syndromes in such pedigrees.

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Authors and Affiliations

  1. Department of Medicine, University of Toronto, Toronto, Ontario, Canada, M5S 1A8

    Evgeny I. Rogaev, Ekaterina A. Rogaeva & Peter H. St George-Hyslop

  2. National Research Center of Mental Health, Laboratory of Molecular Brain Genetics, Academy of Medical Sciences, Moscow, Zagorodnoe sh 2/2, 113152, Russia

    Evgeny I. Rogaev, Ekaterina A. Rogaeva, Galina I. Korovaitseva & Alexander B. Shlensky

  3. National Research Center of Medical Genetics, Academy of Medical Sciences, Moscow, Russia

    Eugene K. Ginter & Alexander N. Pritkov

  4. Departments of Epidemiology and Biostatistics and Neurology, Boston University School of Medicine, 80E. Concord Ave, Boston, Massachusetts, 02118, USA

    Lindsay A. Farrer

  5. Department of Hereditary Skin Diseases, Central Dermatovenerological Institute, Korolenko st. 3, Moscow, 107076, Russia

    Vladimir N. Mordovtsev

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  1. Evgeny I. Rogaev
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Rogaev, E., Rogaeva, E., Ginter, E. et al. Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes. Nat Genet 5, 158–162 (1993). https://doi.org/10.1038/ng1093-158

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