Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis
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 homeodoma...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-05-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2020.00368/full |
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| author | Muhammad Imran Naseer Muhammad Imran Naseer Angham Abdulrahman Abdulkareem Francisco J. Guzmán-Vega Francisco J. Guzmán-Vega Stefan T. Arold Stefan T. Arold Peter Natesan Pushparaj Peter Natesan Pushparaj Adeel G. Chaudhary Adeel G. Chaudhary Adeel G. Chaudhary Mohammad H. AlQahtani Mohammad H. AlQahtani |
| author_facet | Muhammad Imran Naseer Muhammad Imran Naseer Angham Abdulrahman Abdulkareem Francisco J. Guzmán-Vega Francisco J. Guzmán-Vega Stefan T. Arold Stefan T. Arold Peter Natesan Pushparaj Peter Natesan Pushparaj Adeel G. Chaudhary Adeel G. Chaudhary Adeel G. Chaudhary Mohammad H. AlQahtani Mohammad H. AlQahtani |
| author_sort | Muhammad Imran Naseer |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-19T06:41:53Z |
| format | Article |
| id | doaj.art-f57cfc2f8f7e42ee95dad64dd5c15fe5 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-19T06:41:53Z |
| publishDate | 2020-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-f57cfc2f8f7e42ee95dad64dd5c15fe52022-12-21T20:32:03ZengFrontiers Media S.A.Frontiers in Genetics1664-80212020-05-011110.3389/fgene.2020.00368526155Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and PtosisMuhammad Imran Naseer0Muhammad Imran Naseer1Angham Abdulrahman Abdulkareem2Francisco J. Guzmán-Vega3Francisco J. Guzmán-Vega4Stefan T. Arold5Stefan T. Arold6Peter Natesan Pushparaj7Peter Natesan Pushparaj8Adeel G. Chaudhary9Adeel G. Chaudhary10Adeel G. Chaudhary11Mohammad H. AlQahtani12Mohammad H. AlQahtani13Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi ArabiaCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi ArabiaDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi ArabiaCentre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, FranceDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi ArabiaCentre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, Montpellier, FranceCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi ArabiaCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi ArabiaCenter for Innovation in Personalized Medicine, King Abdulaziz University, Jeddah, Saudi ArabiaCenter of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi ArabiaDepartment of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi ArabiaIntellectual 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.https://www.frontiersin.org/article/10.3389/fgene.2020.00368/fullBRPF1dysmorphic faciesintellectual developmental disorderptosisSaudi family |
| spellingShingle | Muhammad Imran Naseer Muhammad Imran Naseer Angham Abdulrahman Abdulkareem Francisco J. Guzmán-Vega Francisco J. Guzmán-Vega Stefan T. Arold Stefan T. Arold Peter Natesan Pushparaj Peter Natesan Pushparaj Adeel G. Chaudhary Adeel G. Chaudhary Adeel G. Chaudhary Mohammad H. AlQahtani Mohammad H. AlQahtani Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis Frontiers in Genetics BRPF1 dysmorphic facies intellectual developmental disorder ptosis Saudi family |
| title | Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis |
| title_full | Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis |
| title_fullStr | Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis |
| title_full_unstemmed | Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis |
| title_short | Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis |
| title_sort | novel missense variant in heterozygous state in the brpf1 gene leading to intellectual developmental disorder with dysmorphic facies and ptosis |
| topic | BRPF1 dysmorphic facies intellectual developmental disorder ptosis Saudi family |
| url | https://www.frontiersin.org/article/10.3389/fgene.2020.00368/full |
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