BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Kerry A MillerDavid A Cruz WalmaDaniel M PinkasRebecca S ToozeJoshua C BuftonWilliam RichardsonCharlotte E ManningAlice E HuntJulien CrosVerity HartillMichael J ParkerSimon J McGowanStephen R F TwiggRod ChalkDavid StauntonDavid JohnsonAndrew O M WilkieAlex N BullockPublished in: Journal of medical genetics (2024)
BTB domain substitutions in KCTD1 and KCTD15 cause clinically overlapping phenotypes involving craniofacial abnormalities and cutis aplasia. The structural analyses demonstrate that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex.