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Article

Developmental expression of the Sturge-Weber syndrome-associated genetic mutation in Gnaq: a formal test of Happle's paradominant inheritance hypothesis.

Genetics - 9 Aug 2023

Wetzel-Strong Sarah E, Galeffi Francesca, Benavides Christian, Patrucco Mary, Bullock Jessica L, Gallione Carol J, Lee Han Kyu, Marchuk Douglas A

Abstract excerpt

Sturge-Weber Syndrome (SWS) is a sporadic (non-inherited) syndrome characterized by capillary vascular malformations in the facial skin, leptomeninges, or the choroid. A hallmark feature is the mosaic nature of the phenotype. SWS is caused by a somatic mosaic mutation in the GNAQ gene (p.R183Q), leading to activation of the G protein, Gαq. Decades ago, Rudolf Happle hypothesized SWS as an example of "paradominant...

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PMID: 37098137
DOI: 10.1093/genetics/iyad077
PMCID: PMC10894004

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