De novo pathogenic variant in TUBB2A presenting with arthrogryposis multiplex congenita, brain abnormalities, and severe developmental delay

We report the sixth individual with a de novo heterozygous TUBB2A pathogenic variant, who presented with a severe neurological phenotype along with unique features of arthrogryposis multiplex congenita, optic nerve hypoplasia, dysmorphic facial features, and vocal cord paralysis, thereby expanding the gene‐related phenotype.

Source: American Journal of Medical Genetics Part A - August 25, 2017 Category: Genetics & Stem Cells Authors: Resham Ejaz, Anath C. Lionel, Susan Blaser, Susan Walker, Stephen W. Scherer, Riyana Babul ‐Hirji, Christian R. Marshall, Dimitri J. Stavropoulos, David Chitayat Tags: CLINICAL REPORT Source Type: research