A Mutation in the Tubulin-Encoding TUBB3 Gene Causes Complex Cortical Malformations and Unilateral Hypohidrosis

Child Neurology Open
Shinobu FukumuraHiroyuki Tsutsumi

Abstract

Recent studies have emphasized the association between tubulin gene mutations and developmental abnormalities of the cortex. In this study, the authors identified a mutation in the tubulin-encoding class III β-tubulin (TUBB3) gene in a 4-year-old boy presenting with brain abnormalities and unilateral hypohidrosis. The patient showed a left internal strabismus, moderate developmental delay, and congenital hypohidrosis of the right side of the body. Magnetic resonance imaging disclosed gyral disorganization mainly in the left perisylvian region, dysmorphic and hypertrophic basal ganglia with fusion between the putamen and caudate nucleus without affecting the anterior limb of the internal capsule, and moderate hypoplasia of the right brain stem and cerebellum. Diffusion tensor imaging studies revealed disorganization of the pyramidal fibers. The amplitude of the sympathetic skin response was low in the right arm, which led to a diagnosis of focal autonomic neuropathy. Sequencing the TUBB3 gene revealed a de novo missense mutation, c.862G>A (p.E288K).

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Citations

Jan 23, 2019·Cytoskeleton·Catherine L Pham, Naomi S Morrissette
Jun 24, 2020·American Journal of Medical Genetics. Part a·Maria L DenticiAndrea Bartuli
Oct 9, 2020·International Journal of Molecular Sciences·Antonella SferraEnrico Bertini
Jan 9, 2021·Journal of Child Neurology·Andreea NissenkornLubov Blumkin
Mar 15, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Lubov BlumkinTally Lerman-Sagie
Dec 7, 2021·Frontiers in Cell and Developmental Biology·Kristen ParkJeffrey K Moore

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