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A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq]

ABSTRACT: A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq]

PROVIDER: PRJNA809011 | ENA |

REPOSITORIES: ENA

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A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [NET-seq]

Project description:In this study, we use transcriptomic approaches, to delineate a non-coding TAPT1 mutation (c.1237-52G>A) resulting in a protein-null allele, that segregated with a congenital recessive disease recessive consisting of Osteogenesis Imperfecta (OI) and neonatal progeria.

2023-01-20 | GSE197119 | GEO

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele

Project description:A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele

| PRJNA809010 | ENA

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [RNA-seq]

2023-01-20 | GSE197118 | GEO

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [RNA-seq]

Project description:A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele [RNA-seq]

| PRJNA809007 | ENA

A Progeroid Syndrome with Severe Osteogenesis Imperfecta segregates with an Intronic TAPT1 homozygous Variant that Creates a knockout allele

Project description:This SuperSeries is composed of the SubSeries listed below.

2023-01-19 | GSE197120 | GEO

OSTEOGENSIS IMPERFECTA

Project description:NGS DATA for OSTEOGENESIS IMPERFECTA affected patients

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DNA methylation in progeroid syndromes

Project description:DNA methylation in progeroid syndromes

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A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.

Project description:Exome sequencing has introduced a paradigm shift for the identification of germline variations responsible for Mendelian diseases. However, non-coding regions, which make up 98% of the genome, cannot be captured. The lack of functional annotation for intronic and intergenic variants makes RNA-seq a powerful companion diagnostic. Here, we illustrate this point by identifying six patients with a recessive Osteogenesis Imperfecta (OI) and neonatal progeria syndrome. By integrating homozygosity mapping and RNA-seq, we delineated a deep intronic TAPT1 mutation (c.1237-52 G>A) that segregated with the disease. Using SI-NET-seq, we document that TAPT1's nascent transcription was not affected in patients' fibroblasts, indicating instead that this variant leads to an alteration of pre-mRNA processing. Predicted to serve as an alternative splicing branchpoint, this mutation enhances TAPT1 exon 12 skipping, creating a protein-null allele. Additionally, our study reveals dysregulation of pathways involved in collagen and extracellular matrix biology in disease-relevant cells. Overall, our work highlights the power of transcriptomic approaches in deciphering the repercussions of non-coding variants, as well as in illuminating the molecular mechanisms of human diseases.

| S-EPMC9906387 | biostudies-literature

APS1 and celiac patients reveal autoimmune amelogenesis imperfecta

Project description:To investigate the dependence of amelogenesis imperfecta-related gene expression and ameloblast-related gene expression on Aire in the thymus, mTEChi from Aire+/+ and Aire-/- were sorted and subjected to bulk RNAseq.

2023-09-21 | GSE224247 | GEO

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