Identification of a Novel De Novo COMP Gene Variant as a Likely Cause of Pseudoachondroplasia

In this study, we identify and report a novel variation in the COMP gene, c.1420_1422del (p.Asn47del), causing a spontaneous form of PSACH in our patient. Our in silico model indicated that any mutational changes in this region are very susceptible to PASCH phenotype. Overall, this study is the first PSACH case in the Turkish Cypriot population. Moreover, this finding contributes to the concept that the genotype-phenotype correlation in COMP is still unknown and also improves our understanding of this complex disorder.
Source: Applied Immunohistochemistry and Molecular Morphology - Category: Chemistry Tags: Research Articles Source Type: research