Genetic and Clinical Spectrum of Osteogenesis Imperfecta in an Egyptian Cohort With a High Rate of Lethal Phenotypes

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Analysis defines genetic variants and clinical outcomes in osteogenesis imperfecta patients, suggesting novel implications for care.

A high rate of lethal osteogenesis imperfecta forms was observed in 10 out of 21 patients, emphasizing genetic risks.
Pathogenic or likely pathogenic variants were found in 14 families, with COL1A1 and COL1A2 being the most commonly mutated genes.
This observational analysis utilized exome sequencing and SNP array-based mapping to explore genetic heterogeneity in the cohort.
The findings highlight the importance of genetic testing in counseling and personalized care for osteogenesis imperfecta patients.

Elhady et al. (2025) studied this question.

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