SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Eduardo CalpenaAraceli CuellarKrithi BalaSigrid M A SwagemakersNils KoellingSimon J McGowanJulie M PhippsMeena BalasubramanianMichael L CunninghamSofia DouzgouWanda LattanziJenny E V MortonDeborah ShearsAstrid WeberLouise C WilsonHelen LordTracy LesterDavid JohnsonSteven A WallStephen R F TwiggIrene M J MathijssenFreya Boardman-Prettynull nullSimeon A BoyadjievAndrew O M Wilkie

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Pathogenic SMAD6 variants substantially increase the risk of both nonsyndromic and syndromic presentations of craniosynostosis, especially metopic synostosis. Functional analysis is important to evaluate missense variants. Genotyping of rs1884302 is not clinically useful. Mechanisms to explain the remarkable diversity of phenotypes associated with SMAD6 variants remain obscure.

Keyphrases

copy number
epithelial mesenchymal transition
transforming growth factor
intellectual disability
genome wide
gene expression
dna methylation
signaling pathway
single cell