Article
TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
American journal of medical genetics. Part A - 1 Aug 2020
Dentici Maria L, Maglione Vittorio, Agolini Emanuele, Catena Gino, Capolino Rossella, Lanari Valentina, Novelli Antonio, Sinibaldi Lorenzo, Vecchio Davide, Gonfiantini Michaela V, Macchiaiolo Marina, Digilio Maria C, Dallapiccola Bruno, Bartuli Andrea
Abstract excerpt
The tubulinopathies refer to a wide range of brain malformations caused by mutations in one of the seven genes encoding different tubulin's isotypes. The β-tubulin isotype III (TUBB3) gene has a primary function in nervous system development and axon generation and maintenance, due to its neuron-specific expression pattern. A recurrent heterozygous mutation, c.1228G > A; p.E410K, in TUBB3 gene is responsible of a...
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