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

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.

• Authors: Peter John, Muhammad Tariq, Muhammad Arshad Rafiq, Muhammad Amin-Ud-Din, Dost Muhammad, Ishrat Waheed, Muhammad Ansar, Wasim Ahmad
• Journal: Archives of dermatological research (Arch Dermatol Res) Vol. 298 Issue 3 Pg. 135-7 (Aug 2006) ISSN: 0340-3696 [Print] Germany
• PMID: 16770573 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DSG4 protein, human
• Desmogleins

Topics

• Base Sequence
• Desmogleins (genetics)
• Female
• Genes, Recessive
• Humans
• Hypotrichosis (genetics)
• Male
• Pakistan
• Pedigree
• Sequence Deletion