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.
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Acknowledgments
We wish to thank the family members for their cooperation. The Higher Education Commission (HEC) Islamabad, Pakistan supported the work presented here. Peter John was supported by HEC Indigenous PhD scholarship program.
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Peter John and Muhammad Tariq have contributed equally to this work.
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John, P., Tariq, M., Arshad Rafiq, M. et al. Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. Arch Dermatol Res 298, 135–137 (2006). https://doi.org/10.1007/s00403-006-0671-3
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DOI: https://doi.org/10.1007/s00403-006-0671-3