Archives of Dermatological Research

, Volume 298, Issue 3, pp 135–137

Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins

  • Peter John
  • Muhammad Tariq
  • Muhammad Arshad Rafiq
  • Muhammad Amin-ud-din
  • Dost Muhammad
  • Ishrat Waheed
  • Muhammad Ansar
  • Wasim Ahmad
Short Communication

DOI: 10.1007/s00403-006-0671-3

Cite this article as:
John, P., Tariq, M., Arshad Rafiq, M. et al. Arch Dermatol Res (2006) 298: 135. doi:10.1007/s00403-006-0671-3

Abstract

Localized autosomal recessive hypotrichosis (LAH) is rare disorder affecting the scalp, trunk and extremities and largely sparing the facial, pubic and axillary hair. Mutations in desmoglein 4 (DSG4) gene are responsible for LAH which maps to human chromosome 18q12. In this study a recurrent intragenic deletion mutation (Ex5_8del) was identified in DSG4 gene in two Pakistani families of Balochi and Sindhi origins. Manifestation of identical intragenic deletion mutation in eight Pakistani families, six reported earlier and two here, is exceptionally evocative of the dispersion of ancestral chromosome in different ethnic groups through common ancestors.

Keywords

Pakistani families of Balochi and Sindhi origins DSG4 Recurrent mutation 

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Peter John
    • 1
  • Muhammad Tariq
    • 1
  • Muhammad Arshad Rafiq
    • 2
  • Muhammad Amin-ud-din
    • 3
  • Dost Muhammad
    • 1
  • Ishrat Waheed
    • 1
  • Muhammad Ansar
    • 2
  • Wasim Ahmad
    • 1
  1. 1.Department of Biochemistry, Faculty of Biological SciencesQuaid-I-Azam UniversityIslamabadPakistan
  2. 2.Department of BiosciencesCOMSATS Institute of Information TechnologyIslamabadPakistan
  3. 3.Department of BiologyGovernment CollegeD. G. KhanPakistan

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