Recurrent Mutation (p.Arg718Pro) in the COMP Gene with Clinical Heterogeneity of Pseudoachondroplasia.

ABSTRACT:

Introduction

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are allelic and caused by mutations in the COMP gene. Other mutations in the genes MMP13, AIFM1, B3GALT6, MATN3, COL9A1, COL9A2, COL9A3, and SLC26A2 have also been associated with evidence of dysplasia in the epiphysis, metaphysis, and spine.

Case presentation

We report on the first Mexican patient diagnosed with PSACH. The diagnosis was confirmed by identifying a recurrent heterozygous mutation c.2153G>C (p.Arg718Pro) in the COMP gene using whole-exome sequencing.

Discussion

The anterior spindle-shaped vertebral bodies and severe short stature are not observed in patients carrying p.Arg718Pro, identifying another amin

SUBMITTER: Toral Lopez J 

PROVIDER: S-EPMC10521230 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature