Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Eduardo CalpenaMaud WurmserSimon J McGowanRodrigo AtiqueDébora R BertolaMichael L CunninghamJonas A GustafsonDavid JohnsonJenny E V MortonMaria Rita Passos-BuenoAndrew T TimberlakeRichard P LiftonSteven A WallStephen R F TwiggPascal MaireAndrew O M WilkiePublished in: Journal of medical genetics (2021)
Craniosynostosis is associated with heterozygous SIX1 variants, with possible enrichment of loss-of-function variants compared with classical BOS. We recommend screening of SIX1 in craniosynostosis, particularly when sagittal±lambdoid synostosis and/or any BOS phenotypes are present. These findings highlight the role of SIX1 in cranial suture homeostasis.