Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 4, Pages 1076-1079Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37545
Keywords
malformation of cortical development (MCD); beta-tubulin class III (TUBB3); tubulin family; mutation
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Funding
- Precursory Research for Embryonic Science and Technology (PRESTO) program of the Japan Science and Technology Agency
- Japan Society for the Promotion of Science [24791090]
- Japan Epilepsy Research Foundation
- Kanae Foundation
- Japan Agency for Medical Research and Development
- JSPS KAKENHI [15K09631]
- Grants-in-Aid for Scientific Research [15K09631, 24791090] Funding Source: KAKEN
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Recent advances in molecular technology have led to the discovery of several genes related to human malformations of cortical development (MCDs). The beta-tubulin class III gene (TUBB3) was identified as a gene responsible for MCDs. Although mouse-model experiments have not revealed any findings of neuronal migration disorders, human TUBB3 mutations have been identified in patients with congenital fibrosis of the extraocular muscles. Since the discovery of a TUBB3 mutation, only 15 mutations have been identified. In this study, comprehensive mutation screening through next-generation sequencing identified a novel TUBB3 mutation (p.Ser230Leu) in a sporadic patient with moderate developmental delay associated with mild MCD. Compared to patients with the alpha-tubulin class 1a gene (TUBA1A) mutations, patients with TUBB3 mutations show milder phenotypic manifestations and milder MCD. Therefore, patients with milder MCD manifestations may be under-diagnosed, and TUBB3 mutations may be rarely identified. Additional genotype-phenotype information should be accumulated for further understanding of the TUBB3 functional relevance. (c) 2016 Wiley Periodicals, Inc.
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