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
Whole exome sequencing in dense families suggests genetic pleiotropy amongst Mendelian and complex neuropsychiatric syndromes
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Publications using Face2Gene - Face2Gene
The contribution of whole-exome sequencing to intellectual disability diagnosis and knowledge of underlying molecular mechanisms: A systematic review and meta-analysis - ScienceDirect
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. - Abstract - Europe PMC
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
PDF) Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset EpilepsyTable_1.xlsxTable_2.xlsxTable_3.docxTable_4.docxTable_5.docx
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Frontiers Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
Recomendado para você
-
Severe persistent pulmonary hypertension in a neonate with29 maio 2024
-
Rubinstein Taybi syndrome causes, symptoms, diagnosis, treatment & prognosis29 maio 2024
-
A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring29 maio 2024
-
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect29 maio 2024
-
Rubinstein-Taybi syndrome (RTS)29 maio 2024
-
What is CdLS? Ben and his Brothers: Life with 4 boys and CdLS29 maio 2024
-
Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library29 maio 2024
-
Rubinstein–Taybi syndrome in diverse populations - Tekendo29 maio 2024
-
Expanding the phenotype associated to KMT2A variants: overlapping29 maio 2024
-
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome29 maio 2024
você pode gostar
-
Dry Erase Tape 2 wide x 5 yards29 maio 2024
-
Fruit Ninja VR 2 Fully Available Today On Quest, PC VR - VRScout29 maio 2024
-
Corte de Cabelo Louco Jogos Online - Mr. Jogos29 maio 2024
-
Pure Wicked (Wicked Lovers, #9.5) by Shayla Black29 maio 2024
-
Five Nights at Candy's 3, Markiplier Wiki29 maio 2024
-
The Appaloosa horse - Royal Horse29 maio 2024
-
Jojos Bizarre Adventure Part 5 Golden Wind Hardcover Volume 329 maio 2024
-
O remake de Zatch Bell já foi anunciado?29 maio 2024
-
If Danzo Conspired With Orochimaru To Kill Hiruzen, What Prevented Him From Becoming Hokage? : r/Naruto29 maio 2024
-
Nurugai, Jigokuraku Wiki29 maio 2024