Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome
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Hori I, Miya F, Ohashi K, Negishi Y, Hattori A, Ando N, et al. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. Am J Med Genet A. 2016;170:1863–7.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. ACMG Laboratory Quality Assurance Committee. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
Srivastava A, Ritesh KC, Tsan, YC, Liao, R, Su, F, Cao, X, et al. De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome. Hum Mol Genet, 2016;25;597–608.
Balasubramanian M, Willoughby J, Fry AE, Weber A, Firth HV, Deshpande C, et al. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. J Med Genet. 2017;54:537–43.
Bainbridge MN, Hu H, Muzny DM, et al. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Optiz syndrome. Genome Med. 2013;2:11.
Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, et al. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur J Hum Genet. 2016;25:183–91.