Loss of function, missense, and intronic variants in NOTCH1 confer different risks for left ventricular outflow tract obstructive heart defects in two European cohorts
Sign Up to like & getrecommendations! Published in 2019 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22176
Abstract: Loss of function variants in NOTCH1 cause left ventricular outflow tract obstructive defects (LVOTO). However, the risk conferred by rare and noncoding variants in NOTCH1 for LVOTO remains largely uncharacterized. In a cohort of 49… read more here.
Keywords: loss function; intronic variants; risk; variants notch1 ... See more keywords
Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease
Sign Up to like & getrecommendations! 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
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteries.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics & genomic medicine"
DOI: 10.1002/mgg3.1804
Abstract: BACKGROUND Defects in the RYR1 (OMIM#180901) gene lead to Ryanodine receptor type 1-related myopathies (RYR1-RM); the most common subgroup of congenital myopathies. METHODS Congenital myopathy presents a diagnostic challenge due to the need for multiple… read more here.
Keywords: congenital myopathy; rna sequencing; neonatal brain; intronic variants ... See more keywords
Characterization of Two Deep Intronic Variants on the β-Globin Gene with Inconsistent Interpretations of Clinical Significance
Sign Up to like & getrecommendations! Published in 2018 at "Hemoglobin"
DOI: 10.1080/03630269.2018.1473255
Abstract: Abstract Sequence variants located in the introns of the β-globin gene may affect the mRNA processing and cause β-thalassemia (β-thal). Sequence variants that change one of the invariant dinucleotides at the exon-intron boundaries may have… read more here.
Keywords: inconsistent interpretations; globin gene; sequence variants; intronic variants ... See more keywords
Identification of five new HLA‐DQB1 intronic variants by next‐generation sequencing
Sign Up to like & getrecommendations! Published in 2023 at "HLA"
DOI: 10.1111/tan.14977
Abstract: Five novel HLA‐DQB1 intronic variants detected by next‐generation sequencing: HLA‐DQB1* 03:01:01:53, ‐DQB1*03:01:01:55, ‐DQB1*03:02:01:17, ‐DQB1*03:02:01:18 and ‐ DQB1*06:03:01:20. read more here.
Keywords: intronic variants; hla dqb1; next generation; dqb1 intronic ... See more keywords
In silico prioritization and further functional characterization of SPINK1 intronic variants
Sign Up to like & getrecommendations! Published in 2017 at "Human Genomics"
DOI: 10.1186/s40246-017-0103-9
Abstract: BackgroundSPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreatitis. Recently, based upon data from qualitative reverse transcription-PCR (RT-PCR) analyses of… read more here.
Keywords: spink1 intronic; donor splice; splice site; site ... See more keywords
Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies
Sign Up to like & getrecommendations! Published in 2020 at "PLoS Genetics"
DOI: 10.1371/journal.pgen.1009100
Abstract: Elucidating the functional consequence of molecular defects underlying genetic diseases enables appropriate design of therapeutic options. Treatment of cystic fibrosis (CF) is an exemplar of this paradigm as the development of CFTR modulator therapies has… read more here.
Keywords: protein; precision therapies; cftr; intronic variants ... See more keywords
Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0058
Abstract: Abstract Objectives Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder of steroidogenesis.11β-hydroxylase deficiency and 17α-hydroxylase deficiency are two forms of CAH caused by defects of CYP11B1 and CYP17A1 respectively. Case presentation Two rare… read more here.
Keywords: adrenal hyperplasia; cah; intronic variants; hyperplasia cah ... See more keywords
Intronic variants in inborn errors of metabolism: Beyond the exome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1031495
Abstract: Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are… read more here.
Keywords: intronic variants; variants inborn; inborn errors; errors metabolism ... See more keywords
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24021562
Abstract: PAX6 haploinsufficiency causes aniridia, a congenital eye disorder that involves the iris, and foveal hypoplasia. Comprehensive screening of the PAX6 locus, including the non-coding regions, by next-generation sequencing revealed four deep-intronic variants with potential effects… read more here.
Keywords: splicing assays; intronic variants; deep intronic; minigene splicing ... See more keywords
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D-Related Disorder
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24031874
Abstract: VPS13D is one of four human homologs of the vacuolar sorting protein 13 gene (VPS13). Biallelic pathogenic variants in the gene are associated with spastic ataxia or spastic paraplegia. Here, we report two patients with… read more here.
Keywords: vps13d related; intronic variants; review; spectrum ... See more keywords