Defining the phenotypical spectrum associated with variants in TUBB2A.

doi:10.1136/jmedgenet-2019-106740

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Article

Defining the phenotypical spectrum associated with variants in TUBB2A.

Journal of medical genetics - 1 Jan 2021

Brock Stefanie, Vanderhasselt Tim, Vermaning Sietske, Keymolen Kathelijn, Régal Luc, Romaniello Romina, Wieczorek Dagmar, Storm Tim Matthias, Schaeferhoff Karin, Hehr Ute, Kuechler Alma, Krägeloh-Mann Ingeborg, Haack Tobias B, Kasteleijn Esmee, Schot Rachel, Mancini Grazia Maria Simonetta, Webster Richard, Mohammad Shekeeb, Leventer Richard J, Mirzaa Ghayda, Dobyns William B, Bahi-Buisson Nadia, Meuwissen Marije, Jansen Anna C, Stouffs Katrien

Abstract excerpt

BACKGROUND: Variants in genes belonging to the tubulin superfamily account for a heterogeneous spectrum of brain malformations referred to as tubulinopathies. Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis. METHODS: In order to...

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PMID: 32571897
DOI: 10.1136/jmedgenet-2019-106740
PMCID: PMC7803914

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