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Article

A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.

American journal of medical genetics. Part A - 1 May 2025

Schouw Mackenna E, Ruivenkamp Claudia A L, Koopmann Tamara T, Santen Gijs W E, Nikkels Peter G J, van der Tuin Karin

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare disease, hallmarked by bone fragility, multiple fractures, and deformities, and is commonly caused by pathogenic variants in the genes encoding type I collagen. Type II OI is the most severe form and is lethal in the perinatal period. Here, we report recurrence of perinatal lethal OI in two fetuses due to parental mosaicism for a deep intronic pathogenic variant at...

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Source

Identifiers

PMID: 39711104
DOI: 10.1002/ajmg.a.63972

Genes

COL1A1

Provenance

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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II.PMID 39711104Read ↗

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