Open AccessIdentification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family
Author(s) -
Εirini Dikaiakou,
Elpis Vlachopapadopoulou,
Emanouil Manolakos,
Panagiotis V Samelis,
Rodanthi Margariti,
Christos Zampakides,
Stefanos Michalacos
Publication year - 2018
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000492190
Subject(s) - genetics , mutation , phenotype , short stature , exome sequencing , gene , genetic counseling , biology , dysplasia , gene mutation , medicine , endocrinology
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.