Gorlin syndrome [3 genes]

Gorlin syndrome is characterized by the formation of numerous basal cell carcinomas and epidermal cysts of the skin, calcified dural folds, maxillary keratocysts, palmar and plantar dimples, ovarian fibromas, medulloblastomas, lymphatic mesenteric cysts, fetal rhabdomyomas and various congenital malformations (such as rib and vertebral anomalies, cleft lip or palate, cortical bone defects and characteristic appearance with prominent forehead, macrocephaly or coarse features).

Gorlin syndrome: 1-9 / 100,000 (ORPHA:377).

The benefits derived from a genetic diagnosis in this context can range from family genetic counseling, typical of genetic studies in general, to the prevention of associated comorbidities, particularly, the reduction in the formation of basal cell carcinomas by limiting sun exposure.

Through the SNVs and CNVs analysis that the exome allows, it is possible to identify the genetic cause in 75-85% of cases. In the remaining cases, the molecular cause is unknown or, exceptionally, it would not be detectable using the technology used.