Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis.
Type
ArticleAuthors
Naseer, Muhammad Imran
Abdulkareem, Angham Abdulrahman
Guzmán-Vega, Francisco J.

Arold, Stefan T.

Pushparaj, Peter Natesan
Chaudhary, Adeel G
AlQahtani, Mohammad H
KAUST Department
Biological and Environmental Sciences and Engineering (BESE) DivisionBioscience Program
Computational Bioscience Research Center (CBRC)
Computer, Electrical and Mathematical Sciences and Engineering (CEMSE) Division
Structural Biology and Engineering
KAUST Grant Number
URF/1/1976Date
2020-05-07Submitted Date
2020-01-12Permanent link to this record
http://hdl.handle.net/10754/662981
Metadata
Show full item recordAbstract
Intellectual 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.Citation
Naseer, 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.2020.00368Sponsors
This 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).Publisher
Frontiers Media SAJournal
Frontiers in geneticsPubMed ID
32457794PubMed Central ID
PMC7221184Additional Links
https://www.frontiersin.org/article/10.3389/fgene.2020.00368/fullhttps://www.frontiersin.org/articles/10.3389/fgene.2020.00368/pdf
ae974a485f413a2113503eed53cd6c53
10.3389/fgene.2020.00368
Scopus Count
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