Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.
AuthorsNaseer, Muhammad Imran
Abdulkareem, Angham Abdulrahman
Guzmán-Vega, Francisco J.
Arold, Stefan T.
Pushparaj, Peter Natesan
Chaudhary, Adeel G
AlQahtani, Mohammad H
KAUST DepartmentBiological and Environmental Sciences and Engineering (BESE) Division
Computational Bioscience Research Center (CBRC)
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Structural Biology and Engineering
KAUST Grant NumberURF/1/1976
Permanent link to this recordhttp://hdl.handle.net/10754/662981
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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.
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
SponsorsThis 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).
PublisherFrontiers Media SA
JournalFrontiers in genetics
PubMed Central IDPMC7221184
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