Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family

• Published in: Molecular syndromology 2019-01, Vol.9 (5), p.241-246
• Main Authors: Dikaiakou, Eirini, Vlachopapadopoulou, Elpis A., Manolakos, Emanouil, Samelis, Panagiotis, Margariti, Rodanthi, Zampakides, Christos, Michalacos, Stefanos
• Format: Article
• Language: English
• Subjects: Novel Insights from Clinical Practice
• ISSN: 1661-8769; 1661-8777
• DOI: 10.1159/000492190

A boy and his father with severe short stature, progressively evolving body asymmetry, and skeletal abnormalities are presented. A next-generation sequencing exome study was performed, and the patient was found heterozygous for the c.1609G>A (p.Gly537Ser) mutation in the COL2A1 gene. This mutation is considered a pathogenic variant and has been previously registered in the Human Gene Mutation Database (HGMD) in association with spondyloepiphyseal dysplasia (accession: CM052184). It has been described in a patient as a sporadic case and resulted in a severe phenotype. Segregation studies, in order to determine the inheritance pattern, identified the same mutation in our patient's father. The variant was transmitted in an autosomal dominant pattern. In conclusion, we describe a patient with hereditary spondyloepiphyseal dysplasia congenita, caused by a c.1609G_A (p.Gly537Ser) mutation in the COL2A1 gene, which resulted in a milder phenotype.