Mosaicism in ASXL3-related syndrome: Description of five patients from three families
Tài liệu tham khảo
Acuna-Hidalgo, 2015, Post-zygotic point mutations are an underrecognized source of de novo genomic variation, Am. J. Hum. Genet., 97, 67, 10.1016/j.ajhg.2015.05.008
Bainbridge, 2013, De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome, Genome Med., 5, 11, 10.1186/gm415
Bakker, 1989, Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations, J. Med. Genet., 26, 553, 10.1136/jmg.26.9.553
Balasubramanian, 2017, 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., 54, 537, 10.1136/jmedgenet-2016-104360
Banka, 2013, MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome, Clin. Genet., 83, 467, 10.1111/j.1399-0004.2012.01955.x
Campbell, 2014, Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders, Am. J. Hum. Genet., 95, 173, 10.1016/j.ajhg.2014.07.003
Campbell, 2014, Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics, Am. J. Hum. Genet., 95, 345, 10.1016/j.ajhg.2014.08.010
Contreras-Capetillo, 2018, Global developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3, Neurologia, 33, 484, 10.1016/j.nrl.2017.01.022
Dad, 2017, Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome, Neurol Genet, 3, e189, 10.1212/NXG.0000000000000189
Forsberg, 2017, Mosaicism in health and disease - clones picking up speed, Nat. Rev. Genet., 18, 128, 10.1038/nrg.2016.145
Hori, 2016, Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome, Am. J. Med. Genet., 170, 1863, 10.1002/ajmg.a.37653
Jonsson, 2018, Multiple transmissions of de novo mutations in families, Nat. Genet., 50, 1674, 10.1038/s41588-018-0259-9
Koboldt, 2018, A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome, Cold Spring Harb Mol Case Stud, 4, 10.1101/mcs.a002410
Kuechler, 2017, Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition, Eur. J. Hum. Genet., 25, 183, 10.1038/ejhg.2016.165
Lek, 2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057
Rahbari, 2016, Timing, rates and spectra of human germline mutation, Nat. Genet., 48, 126, 10.1038/ng.3469
Retterer, 2016, Clinical application of whole-exome sequencing across clinical indications, Genet. Med., 18, 696, 10.1038/gim.2015.148
Snape, 2011, Mutations in CEP57 cause mosaic variegated aneuploidy syndrome, Nat. Genet., 43, 527, 10.1038/ng.822
Srivastava, 2016, De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome, Hum. Mol. Genet., 25, 597, 10.1093/hmg/ddv499
Stosser, 2018, High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders, Genet. Med., 20, 403, 10.1038/gim.2017.114
Verhoeven, 2018, Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome, Neuropsychiatric Dis. Treat., 14, 867, 10.2147/NDT.S153511
Wright, 2015, Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data, Lancet, 385, 1305, 10.1016/S0140-6736(14)61705-0