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Article

Deep intronic mutation in CRTAP results in unstable isoforms of the protein to induce type I collagen aggregation in a lethal type of osteogenesis imperfecta type VII.

Biochimica et biophysica acta. Molecular basis of disease - 1 Aug 2023

Udupa Prajna, Shrikondawar Akshaykumar Nanaji, Nayak Shalini S, Shah Hitesh, Ranjan Akash, Girisha Katta M, Bhavani Gandham SriLakshmi, Ghosh Debasish Kumar

Abstract excerpt

Genetic mutations are involved in Mendelian disorders. Unbuffered intronic mutations in gene variants can generate aberrant splice sites in mutant transcripts, resulting in mutant isoforms of proteins with modulated expression, stability, and function in diseased cells. Here, we identify a deep intronic variant, c.794_1403A>G, in CRTAP by genome sequencing of a male fetus with osteogenesis imperfecta (OI) type...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37146916
DOI: 10.1016/j.bbadis.2023.166741
PMCID: PMC7616376

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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