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 29 maio 2024
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.
PDF) Case report of a syndromic girl with intellectual disability having both DYRK1A and SCN1A mutation
Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
Expanding the Genotypic Spectrum of Congenital Sensory and Autonomic Neuropathies Using Whole-Exome Sequencing
Frontiers Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Frontiers Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh
A novel UBE2A splice site variant causing intellectual disability type Nascimento - Yan - 2022 - Clinical Case Reports - Wiley Online Library
Recomendado para você
-
Rubinstein-Taybi syndrome: MedlinePlus Genetics29 maio 2024
-
Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf29 maio 2024
-
Robinow Syndrome: Most Up-to-Date Encyclopedia, News & Reviews29 maio 2024
-
Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome29 maio 2024
-
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library29 maio 2024
-
genereviews.org - GeneReviews® - NCBI Bookshelf29 maio 2024
-
PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature29 maio 2024
-
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability29 maio 2024
-
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC29 maio 2024
-
Approach to inherited hypertrichosis: A brief review - Indian Journal of Dermatology, Venereology and Leprology29 maio 2024
você pode gostar
-
Amarelo Verde Roxo Dinossauro Barney Crianças Brinquedos de Pelúcia Boneca Dos Desenhos Animados (Color : Green 1pcs 30cm)29 maio 2024
-
Fim de uma era: Baianalista não terá mais quadro no Twitch29 maio 2024
-
Siren head roar by TheSharkPuppetShow29 maio 2024
-
How To Avoid The 8 Latest Gift Card Scams29 maio 2024
-
TODOS os JOGOS do XBOX GAME PASS ULTIMATE - Conferindo TODO o29 maio 2024
-
One Piece Fan Has Counted Up All of the Series Canon Characters29 maio 2024
-
Best Karpov Chess Games - The Chessboard Vault29 maio 2024
-
The Entire Arkham Timeline Explained29 maio 2024
-
Futebol Feminino Brasileiro29 maio 2024
-
Assista A Lenda de Vox Machina temporada 1 episódio 3 em streaming29 maio 2024