Journal article

Defining the phenotypical spectrum associated with variants in TUBB2A

Stefanie Brock, Tim Vanderhasselt, Sietske Vermaning, Kathelijn Keymolen, Luc Regal, Romina Romaniello, Dagmar Wieczorek, Tim Matthias Storm, Karin Schaeferhoff, Ute Hehr, Alma Kuechler, Ingeborg Kraegeloh-Mann, Tobias B Haack, Esmee Kasteleijn, Rachel Schot, Grazia Maria Simonetta Mancini, Richard Webster, Shekeeb Mohammad, Richard J Leventer, Ghayda Mirzaa Show all

JOURNAL OF MEDICAL GENETICS | BMJ PUBLISHING GROUP | Published : 2021

Abstract

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 further refine the phenotypical spectrum associated with TUBB2A, clinical and imaging features of 12 patients with pathogenic TUBB2A variants, recruited via the international network of the authors, were reviewed. RESULTS: We report 12 patients with eight novel and one recurrent var..

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Grants

Awarded by COST (Action)


Funding Acknowledgements

Recruitment and sequencing of patient 11 was supported by the The Australian Genomics Health Alliance, which is funded by National Health and Medical Research Council and the Australian Government's Medical Research Future Fund. ACJ is supported by a Senior Clinical Investigator Fellowship from FWO. SB, RR, GMSM, RL, GMM, WBD, NBB, MM, ACJ and KS are members of Neuro-MIG, the European Network for Brain Malformations, supported by COST (Action CA16118, www.neuro-mig.org).Published with the assistance of the Fondation Universitaire de Belgique.