Julie A Jurgens, Brenda J Barry, Gabrielle Lemire, Wai-Man Chan, Mary C Whitman, Sherin Shaaban, Caroline D Robson, Sarah MacKinnon, Eleina M England, Hugh J McMillan, Christopher Kelly, Brandon M Pratt, Anne O'Donnell-Luria, Daniel G MacArthur, Kym M Boycott, David G Hunter, Elizabeth C Engle
Variants in multiple tubulin genes have been implicated in neurodevelopmental disorders, including malformations of cortical development (MCD) and congenital fibrosis of the extraocular muscles (CFEOM). Distinct missense variants in the beta-tubulin encoding genes TUBB3 and TUBB2B cause MCD, CFEOM, or both, suggesting substitution-specific mechanisms. Variants in the alpha tubulin-encoding gene TUBA1A have been associated with MCD, but not with CFEOM. Using exome sequencing (ES) and genome sequencing (GS), we identified 3 unrelated probands with CFEOM who harbored novel heterozygous TUBA1A missense variants c...
March 1, 2021: European Journal of Human Genetics: EJHG