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Scientists find gene mutation linked with skin disorder


13:40, October 19, 2012

SINGAPORE, Oct. 18 (Xinhua) -- A team of scientists have identified a gene mutation that causes patches of very thick skin to appear on the palms and soles, a much milder form of tree man with bark-like growths on the body, Singapore's Agency for Science, Technology and Research said on Thursday.

Scientists from the agency's Institute of Molecular Biology worked with hospitals and research centers from Britain, Japan and Tunisia in the research on the skin disorder, which is known as punctate palmoplantar keratoderma, or punctate PPK. They analyzed DNA samples collected from 18 families from Scotland, Ireland, Japan and Tunisia who had punctate PPK.

The scientists found that the disorder is caused by mutations in a gene called AAGAB, which was expressed in skin and has a role in the control of cell division.

The identification of the gene mutation will help scientists better understand the molecular basis of the disease and potentially lead to a suitable treatment, the agency said.

Patients with the punctate PPK disorder have thick rough skin patches on their hands and feet which may steadily increase to form larger lesions. In severe cases, the lesions can be painful and debilitating.

Several families in Singapore are afflicted with different types of PPKs and scientists have been working with doctors at the National Skin Center to understand the different forms of the skin disorder.

The findings were published in the online edition of Nature Genetics on Oct. 14.

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