Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7
Por um escritor misterioso
Last updated 16 junho 2024
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://assets.cureus.com/uploads/figure/file/517072/article_river_0b8d24607b9b11edbffd9b15dc41607f-Figure1.png)
Intellectual developmental disorder, autosomal dominant 7 (MRD7; OMIM 614104) is a rare disease characterized by microcephaly, intellectual disability, speech delay, feeding difficulties, and facial dysmorphisms. This disorder is caused by pathogenic/likely pathogenic variants of the DYRK1A gene, which encodes dual-specificity tyrosine-phosphorylation-regulated kinase 1A. Here, we report a case of MRD7 that was diagnosed using Face2Gene and whole-exome sequencing (WES). A 22-year-old man presented with microcephaly, intellectual disability, slender body, long slender fingers, and facial dysmorphisms. He was previously diagnosed with Cornelia de Lange syndrome (CdLS) at four years of age. However, his CdLS clinical diagnostic score was low at 22 years of age. The Face2Gene application introduced several candidate diseases including MRD7. Finally, by utilizing WES and Sanger sequencing analysis of cloned cDNA, we identified a novel heterozygous duplication variant (c.848dup, p.(Asn283LysfsTer6)) in the DYRK1A gene, which introduces a premature stop codon. This report provides more information about the phenotypic spectrum of a young adult patient with MRD7. Face2Gene helped us introduce candidate diseases of the patient. Registering further genetically confirmed cases with MRD7 will improve the accuracy of the diagnostic recommendations in Face2Gene. Moreover, WES is a powerful tool for diagnosing rare genetic diseases, such as MRD7.
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fnrg3555/MediaObjects/41576_2013_Article_BFnrg3555_Fig2_HTML.jpg)
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://i1.rgstatic.net/publication/365858745_Neurodevelopmental_Disorder_Obesity_Pancytopenia_Diabetes_Mellitus_Cirrhosis_and_Renal_Failure_in_ACBD6_-Associated_Syndrome_A_Case_Report/links/63874e43bbdef30dc987429a/largepreview.png)
PDF) Neurodevelopmental Disorder, Obesity, Pancytopenia, Diabetes Mellitus, Cirrhosis, and Renal Failure in ACBD6 -Associated Syndrome: A Case Report
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://www.medrxiv.org/content/medrxiv/early/2021/01/26/2021.01.20.21250155/F3.large.jpg)
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fs41431-018-0299-8/MediaObjects/41431_2018_299_Fig2_HTML.png)
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fs41598-019-38898-9/MediaObjects/41598_2019_38898_Fig1_HTML.png)
Whole exome sequencing identifies a novel intron heterozygous mutation in TSC2 responsible for tuberous sclerosis complex
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://media.springernature.com/m685/springer-static/image/art%3A10.1007%2Fs13258-022-01341-x/MediaObjects/13258_2022_1341_Fig2_HTML.png)
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://www.frontiersin.org/files/Articles/1174925/fnins-17-1174925-HTML/image_m/fnins-17-1174925-g003.jpg)
Frontiers Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://www.frontiersin.org/files/Articles/1185065/fgene-14-1185065-HTML-r1/image_m/fgene-14-1185065-g001.jpg)
Frontiers Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://www.nejm.org/na101/home/literatum/publisher/mms/journals/content/nejm/2013/nejm_2013.369.issue-16/nejmoa1306555/20131011/images/img_medium/nejmoa1306555_t1.jpeg)
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fncomms15824/MediaObjects/41467_2017_Article_BFncomms15824_Fig1_HTML.jpg)
Genetic diagnosis of Mendelian disorders via RNA sequencing
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://www.biorxiv.org/content/biorxiv/early/2020/07/05/2020.03.15.993113/F1.large.jpg)
Whole exome sequencing identifies novel DYT1 dystonia-associated genome variants as potential disease modifiers
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://ars.els-cdn.com/content/image/1-s2.0-S1383574222000187-gr1.jpg)
The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis - ScienceDirect
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://ars.els-cdn.com/content/image/1-s2.0-S1568163723001629-gr2.jpg)
Targeting epigenetics: A novel promise for Alzheimer's disease treatment - ScienceDirect
![Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7](https://onlinelibrary.wiley.com/cms/asset/cab484b9-8317-4268-9706-6b635deb0d65/cge12793-toc-0001-m.jpg?trick=1697590984704)
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping - Amos - 2017 - Clinical Genetics - Wiley Online Library
Recomendado para você
-
Genes, Free Full-Text16 junho 2024
-
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet16 junho 2024
-
Rubinstein-Taybi Syndrome 116 junho 2024
-
Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf16 junho 2024
-
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect16 junho 2024
-
Identification of de novo EP300 and PLAU variants in a patient16 junho 2024
-
Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology16 junho 2024
-
SciELO - Brasil - Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report16 junho 2024
-
Approach to inherited hypertrichosis: A brief review - Indian16 junho 2024
-
PDF) Identification of de novo EP300 and PLAU variants in a16 junho 2024
você pode gostar
-
Vegetto, Wiki Dynami Battles16 junho 2024
-
A New Xbox Codenamed 'Anaconda' May Arrive in 2020: Everything We Know16 junho 2024
-
Death's Eye, Doors Ideas Wiki16 junho 2024
-
TOUR NA NOVA FOREVER 21 DE ORLANDO - FLORIDA MALL16 junho 2024
-
Desenho e Imagem Nezuko Fácil para Colorir e Imprimir Grátis para Adultos e Crianças (Meninas e Meninos)16 junho 2024
-
18 Standard Walnut Chess Board16 junho 2024
-
Crocodile, Trade Roblox Adopt Me Items16 junho 2024
-
Naruto Shippuuden movie 6, Japanese Anime Wiki16 junho 2024
-
Let's Play Cash 'n Guns with Eurogamer LIVE at EGX!16 junho 2024
-
Apparently the DMC wiki doesn't know the name of Dante's sword : r16 junho 2024