SNP Shot: Genomic Insights

Rothmund-Thomson syndrome (RTS) is a rare disorder with wide-ranging effects on the body, particularly the skin. A hallmark of RTS is a facial rash, appearing as redness on the cheeks typically between 3 and 6 months of age. This rash then expands to the arms and legs, resulting in mottled skin discoloration, thinning of the skin (atrophy), and visible clusters of small blood vessels beneath the skin's surface (telangiectases). These skin issues are persistent and collectively referred to as poikiloderma.

Other features of Rothmund-Thomson syndrome include sparse hair on the scalp, eyebrows, and eyelashes; slowed growth and short stature; dental and nail abnormalities; and digestive issues in infancy, such as persistent diarrhea and vomiting. Cataracts, or clouding of the eye's lens, can also develop in affected children, impacting their vision. Many individuals with RTS also experience skeletal problems, including missing or abnormally formed bones, bone fusions, and reduced bone density (osteopenia or osteoporosis). Radial ray malformations, which affect the development of bones in the forearms and thumbs, are among these skeletal abnormalities.

Individuals with Rothmund-Thomson syndrome have an elevated risk of cancer development, notably osteosarcoma, a type of bone cancer. These bone tumors often appear during childhood or adolescence. Certain skin cancers, like basal cell carcinoma and squamous cell carcinoma, are also more prevalent in people with this condition.

The diverse symptoms and signs of Rothmund-Thomson syndrome share similarities with other conditions, specifically Baller-Gerold syndrome and RAPADILINO syndrome. These syndromes also present with radial ray defects, skeletal abnormalities, and slowed growth. Mutations in the same gene can cause all of these conditions. Due to these shared characteristics, researchers are exploring whether Rothmund-Thomson syndrome, Baller-Gerold syndrome, and RAPADILINO syndrome are distinct disorders or variations of a single syndrome with overlapping symptoms.

Inheritance:

Rothmund-Thomson syndrome follows an autosomal recessive inheritance pattern. This means that an affected individual must inherit two copies of a mutated gene, one from each parent. Parents who each carry a single copy of the mutated gene are usually unaffected by the condition.