Messina G, Prozzillo Y, Delle Monache F, Santopietro MV, Atterrato MT, Dimitri P. The ATPase SRCAP is associated with the mitotic apparatus, uncovering novel molecular aspects of Floating-Harbor syndrome. BMC Biol. 2021;19:184. https://doi.org/10.1186/s12915-021-01109-x.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, et al. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013;8:63 https://doi.org/10.1186/1750-1172-8-63.

Article  PubMed  PubMed Central  Google Scholar 

Messina G, Atterrato MT, Dimitri P. When chromatin organisation floats astray: the Srcap gene and floating-harbor syndrome. J Med Genet. 2016;53:793–7. https://doi.org/10.1136/jmedgenet-2016-103842.

Article  CAS  PubMed  Google Scholar 

Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, et al. Truncating SRCAP variants outside the floating-harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021;108:1053–68. https://doi.org/10.1016/j.ajhg.2021.04.008.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012;90:308–13. https://doi.org/10.1016/j.ajhg.2011.12.001.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hood RL, Schenkel LC, Nikkel SM, Ainsworth PJ, Pare G, Boycott KM, et al. The defining DNA methylation signature of Floating-Harbor Syndrome. Sci Rep. 2016;6:38803. https://doi.org/10.1038/srep38803.

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Nogueira E, Garma C, Lobo C, Del Olmo B, Arroyo JM, Gómez I. Severe developmental expressive language disorder due to a frameshift mutation in exon 18 of SRCAP gene, far away from the mutational hotspot in exons 33 and 34 associated to the Floating-Harbor syndrome. Neurol Sci. 2021;42:4349–52. https://doi.org/10.1007/s10072-021-05423-8.

Article  PubMed  Google Scholar 

Zhao B, Madden JA, Lin J, Berry GT, Wojcik MH, Zhao X, et al. A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene. Eur J Hum Genet. 2022;30:1083–7. https://doi.org/10.1038/s41431-022-01137-3.

Article  CAS  PubMed  PubMed Central  Google Scholar 

White-Brown A, Choufani S, Care4Rare Canada Consortium, Weksberg R, Dyment D. Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder. Am J Med Genet A. 2023;91:2640–6. https://doi.org/10.1002/ajmg.a.63329.

Article  CAS  Google Scholar 

Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs. Hum Mutat. 2016;37:235–41. https://doi.org/10.1002/humu.22932.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, et al. Beyond the exome: what’s next in diagnostic testing for Mendelian conditions. Am J Hum Genet. 2023;110:1229–48. https://doi.org/10.1016/j.ajhg.2023.06.009.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med. 2017;9:eaal5209. https://doi.org/10.1126/scitranslmed.aal5209.

Article  PubMed  PubMed Central  Google Scholar 

Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun. 2017;8:15824. https://doi.org/10.1038/ncomms15824.

Article  ADS  CAS  PubMed  PubMed Central  Google Scholar 

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, et al. Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian Disease. Am J Hum Genet. 2019;104:1007. https://doi.org/10.1016/j.ajhg.2019.04.004. Erratum for: Am J Hum Genet. 2019;104:466-483

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lee H, Huang AY, Wang LK, Yoon AJ, Renteria G, Eskin A, et al. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases. Genet Med. 2020;22:490–9. https://doi.org/10.1038/s41436-019-0672-1.

Article  CAS  PubMed  Google Scholar 

Murdock DR, Dai H, Burrage LC, Rosenfeld JA, Ketkar S, Müller MF, et al. Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. J Clin Invest. 2021;131:e141500. https://doi.org/10.1172/JCI141500.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Monroy MA, Ruhl DD, Xu X, Granner DK, Yaciuk P, Chrivia JC. Regulation of cAMP-responsive element-binding protein-mediated transcription by the SNF2/SWI-related protein, SRCAP. J Biol Chem. 2001;276:40721–6. https://doi.org/10.1074/jbc.M103615200.

Article  CAS  PubMed  Google Scholar