TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy

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-tub...

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Veröffentlicht in:	Human genetics 2021-12, Vol.140 (12), p.1709-1731
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Adult Age Amino Acid Substitution Anosmia Anterior commissure Arginine Basal ganglia Biomedical and Life Sciences Biomedicine Cerebellum Child Child, Preschool Congenital defects Corpus callosum Facial Paralysis - diagnosis Facial Paralysis - genetics Facial Paralysis - physiopathology Female Fibrosis Fibrosis - diagnosis Fibrosis - genetics Fibrosis - physiopathology Gait Gene Function Genetic disorders Genotypes Histidine Human Genetics Humans Hypogonadism Hypoplasia Infant Isoforms Kallmann's syndrome Male Medical colleges Medicin och hälsovetenskap Metabolic Diseases Microtubules Missense mutation Molecular Medicine Muscles Mutation Oculomotor system Olfaction disorders Olfactory bulb Ophthalmoplegia Ophthalmoplegia - diagnosis Ophthalmoplegia - genetics Ophthalmoplegia - physiopathology Original Investigation Paralysis Peripheral Nervous System Diseases - diagnosis Peripheral Nervous System Diseases - genetics Peripheral Nervous System Diseases - physiopathology Peripheral neuropathy Phenotypes Syndrome Tachycardia Tubulin Tubulin - genetics Tubulins Vomiting Young Adult
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