Rothmund–Thomson syndrome
Rothmund–Thomson syndrome is a rare autosomal recessive skin condition.
There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome.
Signs and symptoms
- Sun-sensitive rash with prominent poikiloderma and telangiectasias
- Juvenile cataracts
- Saddle nose
- Congenital bone defects, including short stature and radial ray anomalies such as absent thumbs
- Hair growth problems
- Hypogonadism has not been well documented
- Hypodontia
- Calcium problems
- Ear problems
- Produces osteosarcoma
Accelerated aging
In humans, individuals with RTS, and carrying the RECQL4 germline mutation, can have several clinical features of accelerated aging. These features include atrophic skin and pigment changes, alopecia, osteopenia, cataracts and an increased incidence of cancer. Also in mice, RECQL4 mutants show features of accelerated aging.Causes
recessive - en.svg|thumb|right|Rothmund–Thomson syndrome has an autosomal recessive pattern of inheritance.]RTS is caused by a mutation of the RECQL4 gene, located at chromosome 8q24.3. The disorder is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.