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dc.contributor.authorNaseer, Muhammad Imran
dc.contributor.authorAbdulkareem, Angham Abdulrahman
dc.contributor.authorGuzmán-Vega, Francisco J.
dc.contributor.authorArold, Stefan T.
dc.contributor.authorPushparaj, Peter Natesan
dc.contributor.authorChaudhary, Adeel G
dc.contributor.authorAlQahtani, Mohammad H
dc.date.accessioned2020-06-03T06:34:00Z
dc.date.available2020-06-03T06:34:00Z
dc.date.issued2020-05-28
dc.date.submitted2020-01-12
dc.identifier.citationNaseer, M. I., Abdulkareem, A. A., Guzmán-Vega, F. J., Arold, S. T., Pushparaj, P. N., Chaudhary, A. G., & AlQahtani, M. H. (2020). Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis. Frontiers in Genetics, 11. doi:10.3389/fgene.2020.00368
dc.identifier.issn1664-8021
dc.identifier.pmid32457794
dc.identifier.doi10.3389/fgene.2020.00368
dc.identifier.urihttp://hdl.handle.net/10754/662981
dc.description.abstractIntellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis. Heterozygous mutations in bromodomain and plant homeodomain (PHD) finger containing one (BRPF1) gene have been reported. In this study, whole exome sequencing (WES) was performed as a molecular diagnostic test. Bioinformatics of WES data and candidate gene prioritization identified a novel variant in heterozygous state in the exon 3 of BRPF1 gene (ENST383829: c.1054G > C and p.Val352Leu). Autosomal dominant inheritance in the family affected individuals and exclusion of non-pathogenicity in the ethnically matched healthy controls (n = 100) were performed by Sanger sequencing. To the best of our knowledge, this is the first evidence of BRPF1 variant in a Saudi family. Whole exome sequencing analysis has been proven as a valuable tool in the molecular diagnostics. Our findings further expand the role of WES in efficient disease diagnosis in Arab families and explained that the mutation in BRPF1 gene plays an important role for the development of IDDFP syndrome.
dc.description.sponsorshipThis project was funded by the Deanship of Scientific Research (DSR), King Abdulaziz University, Jeddah, under Grant No. (DF-490-142-1441). We, therefore, gratefully acknowledge DSR technology and financial support. Funding. SA and FG-V were supported by the King Abdullah University of Science and Technology (KAUST) through the baseline fund and the Award No. URF/1/1976-25 from the Office of Sponsored Research (OSR).
dc.publisherFrontiers Media SA
dc.relation.urlhttps://www.frontiersin.org/article/10.3389/fgene.2020.00368/full
dc.relation.urlhttps://www.frontiersin.org/articles/10.3389/fgene.2020.00368/pdf
dc.rightsThis is an open access article.
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.titleNovel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.
dc.typeArticle
dc.contributor.departmentBioscience Program
dc.contributor.departmentComputational Bioscience Research Center (CBRC)
dc.contributor.departmentBiological and Environmental Sciences and Engineering (BESE) Division
dc.identifier.journalFrontiers in genetics
dc.identifier.pmcidPMC7221184
dc.eprint.versionPublisher's Version/PDF
dc.contributor.institutionCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia
dc.contributor.institutionDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia
dc.contributor.institutionCentre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, France
dc.contributor.institutionCenter for Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi Arabia
dc.identifier.volume11
kaust.personGuzman Vega, Francisco
kaust.personArold, Stefan T.
kaust.grant.numberURF/1/1976
dc.date.accepted2020-03-25
dc.identifier.eid2-s2.0-85085091984
refterms.dateFOA2020-06-03T06:34:43Z
kaust.acknowledged.supportUnitOffice of Sponsored Research (OSR)


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