Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
Human genetics - 1 Dec 2021
Whitman Mary C, Barry Brenda J, Robson Caroline D, Facio Flavia M, Van Ryzin Carol, Chan Wai-Man, Lehky Tanya J, Thurm Audrey, Zalewski Christopher, King Kelly A, Brewer Carmen, Almpani Konstantinia, Lee Janice S, Delaney Angela, FitzGibbon Edmond J, Lee Paul R, Toro Camilo, Paul Scott M, Abdul-Rahman Omar A, Webb Bryn D, Jabs Ethylin Wang, Moller Hans Ulrik, Larsen Dorte Ancher, Antony Jayne H, Troedson Christopher, Ma Alan, Ragnhild Glad, Wirgenes Katrine V, Tham Emma, Kvarnung Malin, Maarup Timothy James, MacKinnon Sarah, Hunter David G, Collins Francis S, Manoli Irini, Engle Elizabeth C
Abstract excerpt
Microtubules are formed from heterodimers of alpha- and beta-tubulin, each of which has multiple isoforms encoded by separate genes. Pathogenic missense variants in multiple different tubulin isoforms cause brain malformations. Missense mutations in TUBB3, which encodes the neuron-specific beta-tubulin isotype, can cause congenital fibrosis of the extraocular muscles type 3 (CFEOM3) and/or malformations of...
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