Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
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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
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
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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
Sign Up to like & getrecommendations! 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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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
F9 mRNA splicing aberration due to a deep Intronic structural variation in a patient with moderate hemophilia B.
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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
Antisense oligonucleotide induced pseudoexon skipping and restoration of functional protein for Fukuyama muscular dystrophy caused by a deep-intronic variant.
Sign Up to like & getrecommendations! 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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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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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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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
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease
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DOI: 10.3389/fgene.2022.852764
Abstract: Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular… read more here.
Keywords: genome sequencing; deep intronic; patient; atp7a gene ... See more keywords
Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.979732
Abstract: The precise identification of pathogenic DMD variants is sometimes rather difficult, mainly due to complex structural variants (SVs) and deep intronic splice-altering variants. We performed genomic long-read whole DMD gene sequencing in a boy with… read more here.
Keywords: deep intronic; interspersed nuclear; becker muscular; long interspersed ... See more keywords