title: De Novo TUBB2A Variant Presenting With Anterior Temporal Pachygyria.
abstract: TUBB2A is a gene that has recently been reported in association with structural brain abnormalities. Only 3 cases have been reported to date with disparate brain morphologic abnormalities, although all patients have presented with developmental delay and infantile-onset epilepsy. We report a fourth patient with a de novo variant in TUBB2A that is predicted to be pathogenic, presenting with developmental delay, spastic diplegia, exaggerated startle, and anterior temporal pachygyria in the absence of epilepsy. This report serves to further delineate the phenotype of the TUBB2A-related disorders. Focal anterior temporal pachygyria may facilitate recognition of additional cases of this tubulinopathy.
authors: 1 Department of Pediatrics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Lance H
authors: LH
authors: Rodan
authors: 2 Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Christelle Moufawad
authors: CM
authors: El Achkar
authors: 1 Department of Pediatrics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Gerard T
authors: GT
authors: Berry
authors: 2 Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Annapurna
authors: A
authors: Poduri
authors: 3 Department of Radiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Sanjay P
authors: SP
authors: Prabhu
authors: 3 Department of Radiology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Edward
authors: E
authors: Yang
authors: 2 Department of Neurology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.
authors: Irina
authors: I
authors: Anselm
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002675:Child, Preschool; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D054082:Lissencephaly / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010641:Phenotype; D014404:Tubulin / Q000235:genetics*
chemical_list: C000625781:TUBB2A protein, human; D014404:Tubulin
keywords: TUBB2A-related disorders; corpus callosum; pachygyria; structural brain abnormalities; tubulinopathy