STURGE-WEBER SYNDROME

GENETICS

PATTERN OF INHERITANCE

• de novo acquired somatic gene abnormality

KNOWN GENES

• GNAQ (somatic gene abnormality in progenitor vascular cells).
• Non syndromic facial port wine stains have also been demonstrated to be caused by a somatic gene abnormality in this gene, the pathogenic variant is likely to occur at a later stage in development.

FAMILY HISTORY

Not applicable