Recurrent Mutation (p.Arg718Pro) in the < b > < i > COMP < /i > < /b > Gene with Clinical Heterogeneity of Pseudoachondroplasia

We report on the first Mexican patient diagnosed with PSACH. The diagnosis was confirmed by identifying a recurrent heterozygous mutation c.2153G#x3e;C (p.Arg718Pro) in theCOMP 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 amino acid site associated with clinical heterogeneity. Reporting new cases with clinical heterogeneity in terms of phenotype plays a crucial role in understanding PSACH and MED pathogenesis. The most important aspect of this presentation is providing a new perspective on a recognized clinical scenario, thus setting the standard for better genetic counseling.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research