Rothmund-Thompson's syndrome

From open-encyclopedia.com - the free encyclopedia.

Rothmund-Thompson's syndrome is a hereditary and familial disease characterized by short stature, cataracts, pigmentation of skin, baldness, abnormalities of bones, nails and teeth. The syndrome was first defined by the German ophthalmologist August Rothmund in 1868. It has recently been considered to be caused by a mutation in the RecQ helicase gene RECQ4, which is involved in DNA replication and cell reproduction. Currently, there is no treatment for the disease.

Other conditions caused by RecQ helicase defects are:

• Bloom syndrome: BLM gene
• Werner syndrome: WRN gene

External links

• RecQ Helicases, introduction at UNC's Selsky Lab.
• BLM gene encodes a RecQ Helicase, descripton of the gene