Clinical and Molecular Characterization of Achondroplasia in Egyptian Patients

Abstract

Achodroplasia [ACH] is the most common form of chondrodysplasias in humans. It is characterized by disproportionate short stature and other skeletal anomalies. The disorder is inherited as an autosomal dominant trail, although the majority of cases are sporadic. A inherited as an autosomal dominant trait, although the majority of cases are sporadic. A recurrent glycine to arginine mutation at codon 380 [G380R] of transmembrane domain of fibroblast growth factor receptor 3 [FGFR-3] was identified in the majority of Western and Japanese patients. To determine whether this mutation is also common in Egyptian patients, G380R mutations [[G-to-A] transition and [G-to-C] transversion] were examined in 18 sporadic patients and 2 affected members of the same family. Their available parents [16 fathers and 19 mothers] and 20 control were also examined for the presence of the two mutations. All patients had the same G380 R mutation with G-to-A transition and none had G-to-C transversion. Neither the parents nor the control group carried any of the two mutations. The clinical and radiological data of the genotyped Achondroplasia patients were analyzed. Conclusion: The results of this study further support the observation that G380R of the FGFR-3 is the most common mutation causing ACH across different populations and also showed that rhizomelia of the upper limb, relative macrocephaly, and midface hypoplasia are the most obvious features of ACH and the most important radiological findings are narrowing of interpedicular distance together with characteristic pelvic changes.