Sturge-Weber syndrome. Detection of the p.Arg183Gln mutation in the GNAQ gene. NexteGeneDx [1 gene]

Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome characterized by a congenital facial capillary malformation (port-wine stain) associated with ipsilateral cerebral and ocular vascular malformations leading to ocular and neurological complications. Glaucoma is the most common ocular complication, affecting between 30 and 60% of patients. Epilepsy is usually the first neurological manifestation. About 80% of patients develop epileptic seizures at an average age of 6 months.

Incidence: 1 / 20,000-50,000 newborns (ORPHA:3205).

The entity is caused, in up to 88% of cases, by a somatic mutation in the GNAQ gene (c.548G>A, p.Arg183Gln). The search for this variant in the affected tissue is the best strategy to find the molecular etiology.

The benefits derived from a genetic diagnosis in this context are aimed at closing the diagnosis and providing adequate genetic counseling to the family.

Service is indicated when a clinical diagnosis of Sturge-Weber syndrome has been made or, at least, if the patient suffers from a port wine stain on the face.

Up to 88% of patients with Sturge-Weber syndrome suffer from the mutation analyzed through this service. An analysis based on high-depth sequencing should be able to find the molecular cause in practically all cases, as long as the sample quality has been sufficient to complete the analysis.