Dyskeratosis Congenita (RTEL1-Related) (RTEL1)
Dyskeratosis congenita (RTEL1-related) is a rare autosomal recessive disorder caused by pathogenic variants in the gene RTEL1. While it has been identified in patients from multiple ethnicities, a relative excess in patients from the Ashkenazi Jewish population has been observed due to the presence of a founder mutation. Dyskeratosis congenita is a rare skin disorder, in which affected patients exhibit dysplastic nails, changes in skin pigmentation, and the formation of plaques on the mucous membranes of the mouth. Patients have a high risk of developing bone marrow failure and cancer, which contributes to early mortality. Life expectancy is variable depending on the severity of the disease, but may range from infancy to the late adulthood. No genotype-phenotype correlation has been observed.
For information about carrier frequency and residual risk, please see the residual risk table.