What Your Test Results Mean:

Carriers typically show no symptoms of dyskeratosis congenita; however, carriers are at an increased risk of having a child with dyskeratosis congenita. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor for more detailed risk assessment.

Disease Explained:

Dyskeratosis congenita is an inherited condition caused by defects in the maintenance of telomeres in the cell. The classical signs of this disorder are abnormal skin pigmentation, nail dystrophy, and white patches in the mouth. Most people with dyskeratosis congenita have normal intelligence and motor development, but they are very vulnerable to certain conditions such as bone marrow failure, pulmonary fibrosis, cancer, liver disease, osteoporosis, and blocked tear ducts. The severity of the disorder is variable, but seriously affected individuals die from bone marrow failure, cancer, or pulmonary fibrosis by early adulthood.

How the Genetics Works:

Dyskeratosis congenita is an autosomal recessive disorder caused by pathogenic variants in the NOLA3 gene. In general, individuals have two copies of the NOLA3 gene. Carriers of dyskeratosis congenita have a single variant in one copy of the NOLA3 gene while individuals with dyskeratosis congenita have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.