A Variant in Associated with Motoneuronopathy and Corpus Callosum Hypoplasia: A Case Report

Overview

Journal Int J Mol Sci

Publisher MDPI

Specialties Biochemistry
Chemistry
Molecular Biology

Date 2023 Aug 12

PMID 37569761

Authors

Maria Caputo

Ilaria Martinelli

Nicola Fini

Giulia Gianferrari

Cecilia Simonini

Rosanna Trovato

Filippo Maria Santorelli

Alessandra Tessa

Jessica Mandrioli

Elisabetta Zucchi

Affiliations

Soon will be listed here.

Abstract

Mutations in the tubulin-specific chaperon D () gene, involved in the assembly and disassembly of the α/β-tubulin heterodimers, have been reported in early-onset progressive neurodevelopment regression, with epilepsy and mental retardation. We describe a rare homozygous variant in , namely c.881G>A/p.Arg294Gln, in a young woman with a phenotype dominated by distal motorneuronopathy and mild mental retardation, with neuroimaging evidence of corpus callosum hypoplasia. The peculiar phenotype is discussed in light of the molecular interpretation, enriching the literature data on tubulinopathies generated from mutations.

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