A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia [PDF]
HeliyonBackground: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex steroid deficiencies.
Kheloud M. Alhamoudi +4 more
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PLoS Genetics, 2022 To determine the contribution of defective splicing in Autism Spectrum Disorders (ASD), the most common neurodevelopmental disorder, a high throughput Massively Parallel Splicing Assay (MaPSY) was employed and identified 42 exonic splicing mutants out of
Christy L Rhine +9 more
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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4
Nature Communications, 2021 Genetic studies of eczema to date have mostly explored common genetic variation. Here, the authors perform a large meta-analysis for common and rare variants and discover 8 loci associated with eczema.
Sarah Grosche +62 more
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Human Mutation, 2020 Improving the accuracy of variant interpretation during diagnostic sequencing is a major goal for genomic medicine. In order to explore an often overlooked splicing effect of missense variants, we developed the functional assay (“minigene”) for the ...
Nicolas Levy +2 more
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Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay
Frontiers in Genetics, 2020 BackgroundFamilial renal glucosuria is a rare renal tubular disorder caused by SLC5A2 gene variants. Most of them are exonic variants and have been classified as missense variants.
Sai Wang +10 more
doaj +3 more sources
PLoS Genetics, 2019 Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift can ...
Mihail Halachev +16 more
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An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière’s disease
npj Genomic MedicineMenière’s disease (MD) is an inner ear disorder characterised by episodes of vertigo, sensorineural hearing loss and tinnitus linked to autoinflammation and/or type 2 immune response.
Pablo Cruz-Granados +4 more
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LPA Kringle IV Type‐2 Genetic Variants Are Associated With Apolipoprotein (a) Size, Hypertension, and Nonfasting Glucose Levels [PDF]
Journal of the American Heart Association: Cardiovascular and Cerebrovascular DiseaseBackground High plasma lipoprotein (a) (Lp[a]) levels, largely regulated by variation in the LPA gene, are a causal risk factor for atherosclerotic cardiovascular disease.
Yihao Li +4 more
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WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
Human Molecular Genetics, 2015 Adriana I Iglesias +2 more
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Integration of deep intronic and RNA sequencing enhances molecular diagnosis in genetically unsolved Pompe cases [PDF]
Molecular Genetics and Metabolism ReportsWe describe a diagnostic workflow integrating deep intronic and RNA sequencing to resolve genetically unsolved Pompe cases. A five-year-old girl with hypertrophic cardiomyopathy, muscle weakness, recurrent respiratory tract infections, elevated CK levels,
Huseyin Onay +6 more
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