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42 Possible Causes for Mutation in the Beta Tubulin Gene

  • Retinitis Pigmentosa

    beta-tubulin gene of Drosophila melanogaster.[doi.org] ., Prout, M. and Fuller, M.T. ( 1989 ) Interacting proteins identified by genetic interactions: a missense mutation in alpha-tubulin fails to complement alleles of the testis-specific[doi.org] Biol., 9, 875 –884. 42 Harris, M.J. and Juriloff, D.M. ( 1998 ) Nonallelic noncomplementation models in mice: The first arch and lidgap-Gates mutations.[doi.org]

  • Autosomal Dominant Macrothrombocytopenia

    A mutation in the beta-1 tubulin gene has been identified as the cause in a number of breeds.[vetgen.com]

  • Polymicrogyria

    We identify the causal mutation in the tubulin, beta-2b (Tubb2b) gene as a missense mutation at a highly conserved residue (N247S).[ncbi.nlm.nih.gov] Jaglin XH, Poirier K, Saillour Y et al (2009) Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.[doi.org] Here we report our cloning of the brain dimple (brdp) mouse mutation, which we recovered from an ENU screen for recessive perinatal phenotypes affecting neurodevelopment.[ncbi.nlm.nih.gov]

  • Degenerative Disorder

    Romaniello R, Arrigoni F, Bassi MT, Borgatti R (2015) Mutations in alpha- and beta-tubulin encoding genes: implications in brain malformations.[doi.org] Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D et al (2013) A de novo mutation in the beta-tubulin gene TUBB4A[doi.org] Hersheson J, Mencacci NE, Davis M, MacDonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K et al (2013) Mutations in the autoregulatory domain of beta-tubulin[doi.org]

  • Familial Porencephaly

    Jaglin XH , Poirier K , Saillour Y , et al . ( 2009 ) Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria . Nat Genet 41 : 746 –52.[cambridge.org] Jin Z , Tietjen I , Bu L , et al . ( 2007 ) Disease associated mutations affect GPR56 protein trafficking and cell surface expression . Hum Mol Genet 16 : 1972 –85.[cambridge.org]

  • Mobius Syndrome

    Although no such gene was identified and we did not find mutations in and, we found a de novo heterozygous mutation, p.E410K, in the gene encoding tubulin beta 3 class III[mendelian.org] gene.[mendelian.org] In a cohort study of nine individuals suspected to have Moebius syndrome (six typical, three atypical), we performed whole-exome sequencing to try to identify a commonly mutated[mendelian.org]

  • Congenital Fibrosis of Extraocular Muscles

    Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.[ncbi.nlm.nih.gov] Most CFEOM3 families have mapped to 16qter [ 23 - 25 ] and are due to heterozygous mutation in tubulin beta-3 ( TUBB3 ), a gene involved in microtubule dynamics, kinesin interactions[molvis.org]

  • Goldberg-Shprintzen Syndrome

    Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria , Nat. Genet. , 2009 , vol. 41 (pg. 746 - 752 ) 40 , , , , , , , , , , et al.[doi.org] Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans , Cell , 2007 , vol. 128 (pg. 45 - 57 ) 39 , , , , , , , , , , et al.[doi.org] Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia , Am. J. Hum.[doi.org]

  • Seckel Syndrome

    Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.[ncbi.nlm.nih.gov]

  • Kenny-Caffey Syndrome Type 1

    KCS is due to mutations in the TBCE gene. The TBCE gene encodes a protein that participates in beta-tubulin folding ( 4 , 6 ).[qims.amegroups.com] The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers.[scienceopen.com] Mutations in the TBCE gene have been also associated with the recessive disorder Sanjad-Sakati syndrome (SSS) [MIM 241410; hypoparathyroidism, short stature, intellectual[qims.amegroups.com]

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