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Case Report

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

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Pages 867-870 | Published online: 27 Mar 2018

References

  • BainbridgeMNHuHMuznyDMDe novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeGenome Med2013521123383720
  • SrivastavaARiteshKCTsanYCDe novo dominant ASXL3 mutations alter H2A deubiquination and transcription in Bainbridge-Ropers syndromeHum Mol Genet201625359760826647312
  • DinwiddleDLSodenSESaundersCJDe novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomaliesBMC Med Genomics2016632
  • HoriIMiyaFOhashiKNovel splicing in the ASXL3 gene causing Bainbridge Ropers syndromeAm J Med GenetA2016170718631867
  • KuechlerACzeschikJCGrafEBainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable conditionEur J Hum Genet201725218319127901041
  • BalasubramanianMWilloughbyJFryAEDelineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo heterozygous, loss-of-function mutations in ASXL3 and review of the published literatureJ Med Genet201754853754328100473
  • Contreras-CapetilloSNVilchis-ZapataZHRibbón-CondeJPinto-EscalanteDGlobal developmental delay and postnatal microcephaly: Bainbridge-Ropers syndrome with a new mutation in ASXL3Neurología Epub2017418
  • NevelingKFeenstraIGilissenCPost-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseasesHumMutat2013341217211726
  • StensonPDMortMBallEVThe human gene mutation database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studiesHum Genet2017136666567728349240
  • ScholteEVan DuijnEDijkxhoornYVineland Screener 0-6 Years: Manual of the Dutch AdaptationLeiden, The NetherlandsPITS2008
  • KraijerDWKemaGNSociale Redzaamheidsschaal Voor Verstandelijk Gehandicapten Van Hoger Niveau (SRZ-P)Amsterdam, The NetherlandsPearson2004
  • BeeryKEBuktenicaNABeeryNAThe Beery-Buktenica Developmental Test of Visual-Motor Integration (Beery VMI)5th edSan Antonio, TexasPearson2004
  • WilsonBAldermanNBurgessPEmslieHEvansJBehavioural Assessment of the Dysexecutive Syndrome (BADS)London, UKPearson1997
  • JanssenGTDe MeyHREggerJIExecutive functioning in college students: evaluation of the Dutch executive function index (EFI-NL)Int J Neurosci2009119679280519326285
  • MatsonJLKazdinAESenatoreVPsychometric properties of the psychopathology instrument for mentally retarded adultsAppl Res Ment Retard19845181896721483