Genetic variations in pseudoachondroplasia: a review of case reports.

INTRODUCTION: Pseudoachondroplasia is a rare and severe genetic disorder caused by a mutation in the COMP gene, making precise molecular diagnosis crucial for effective treatment. In the literature, case reports of patients with pseudoachondroplasia have consistently described novel mutations in the COMP gene.

METHODS: This study aimed to review these published articles. The description includes the mutation in the COMP gene; clinical symptoms; and the sex, age, and height of the individual with pseudoachondroplasia.

RESULTS: A review identified various point mutations, deletions, and insertions in the COMP gene that lead to pseudoachondroplasia by affecting the structure and function of the COMP protein.

DISCUSSION: Recent advancements in next-generation sequencing make it essential to use comprehensive genetic screening for bone disorders such as pseudoachondroplasia because this testing enables precise, cost-effective, and rapid mutation detection across multiple genes, improving diagnostic accuracy and supporting informed reproductive decisions and genetic counseling.