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   Articles with "deep intronic" as a keyword



Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

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recommendations! Published in 2025 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.70013

Abstract: Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant… read more here.

Keywords: variant expand; dopa responsive; deep intronic; intronic variant ... See more keywords
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Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

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recommendations! Published in 2019 at "Human Mutation"

DOI: 10.1002/humu.23787

Abstract: Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many patients are genetically unsolved due to insensitive mutation‐scanning methods. We aimed to develop a cost‐effective sequencing method for ABCA4 exons and regions carrying… read more here.

Keywords: deep intronic; cost effective; stargardt disease; intronic variants ... See more keywords
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Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A

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recommendations! Published in 2021 at "Human Mutation"

DOI: 10.1002/humu.24235

Abstract: Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule‐associated protein 210 (GMAP‐210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, vesicular… read more here.

Keywords: 5457 81t; deep intronic; variant 5457; variant ... See more keywords

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

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recommendations! Published in 2022 at "Human Mutation"

DOI: 10.1002/humu.24438

Abstract: Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (RNA‐seq) in… read more here.

Keywords: lange syndrome; rna sequencing; deep intronic; rna ... See more keywords

A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease

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recommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1428

Abstract: Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain. This disease is mainly characterized by hepatic disorders and less frequently by neuro‐psychiatric disturbances. This… read more here.

Keywords: atp7b; deep intronic; disease; novel deep ... See more keywords
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F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B.

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recommendations! Published in 2022 at "Thrombosis research"

DOI: 10.1016/j.thromres.2022.03.010

Abstract: INTRODUCTION Hemophilia B (HB) is a hereditary bleeding disorder caused by the genetic variation of the coagulation factor IX (FIX) gene (F9). Several F9 structural abnormalities, including large deletion and/or insertion, have been observed to… read more here.

Keywords: mrna splicing; deep intronic; patient moderate; variation ... See more keywords

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa

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recommendations! Published in 2024 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2401781121

Abstract: Significance Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe genetic disease caused by variants in COL7A1 encoding type VII collagen (C7). Patients develop recurrent blistering and erosions of the skin and mucosae leading… read more here.

Keywords: dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa; deep intronic ... See more keywords

Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.

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recommendations! Published in 2022 at "Human molecular genetics"

DOI: 10.1093/hmg/ddac286

Abstract: Fukuyama congenital muscular dystrophy (FCMD) is an autosomal recessive disorder caused by fukutin (FKTN) gene mutations. FCMD is the second most common form of childhood muscular dystrophy in Japan, and the most patients possess a… read more here.

Keywords: deep intronic; antisense oligonucleotide; muscular dystrophy; protein ... See more keywords

Overcoming the challenges associated with identification of deep intronic variants by whole genome sequencing

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recommendations! Published in 2023 at "Clinical Genetics"

DOI: 10.1111/cge.14305

Abstract: Whole‐genome sequencing (WGS) now allows identification of multiple variants in non‐coding regions. The large number of variants identified by WGS however complicates their interpretation. Through identification of the first deep intronic variant in NPHS2, which… read more here.

Keywords: overcoming challenges; genome sequencing; deep intronic; identification ... See more keywords

An FBN1 deep intronic variant is associated with pseudoexon formation and a variable Marfan phenotype in a five generation family

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recommendations! Published in 2023 at "Clinical Genetics"

DOI: 10.1111/cge.14322

Abstract: Exome sequencing of genes associated with heritable thoracic aortic disease (HTAD) failed to identify a pathogenic variant in a large family with Marfan syndrome (MFS). A genome‐wide linkage analysis for thoracic aortic disease identified a… read more here.

Keywords: phenotype; family; deep intronic; thoracic aortic ... See more keywords

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing

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recommendations! Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2021.806946

Abstract: Understanding pre-mRNA splicing is crucial to accurately diagnosing and treating genetic diseases. However, mutations that alter splicing can exert highly diverse effects. Of all the known types of splicing mutations, perhaps the rarest and most… read more here.

Keywords: splice events; splicing; splice; deep intronic ... See more keywords