MMP13 F 56 S mutation is not associated with Spondyloepimetaphyseal Dysplasia:Handigodu type

Handigodu (HG) syndrome is a disorder of the osteoarticular system prevalent in few villages of two districts of the Karnataka state in Southern India. The condition was first observed from a Handigodu village, hence its name. Subsequent multidisciplinary study by the Indian Council of Medical Research (ICMR), Government of India revealed that Handigodu syndrome could be considered as late onset spondylo epi (meta) physeal dysplasia. Genomic DNA was isolated from 5ml of peripherial blood samples of Handigodu syndrome affected individuals and controls further it has been sequenced exon 2 of MMP 13 gene to identify the mutation at the codon F 56 S. The sequence analysis of exon 2 of MMP13 did not reveal any polymorphisms, including the functional F 56 S, in both patients and controls. MMP 13 is important for the replacement of cartilage with bone and not in the elongation of long bones, which may be controlled by its upstream signalling molecules. This explains the absence of MMP 13 mutation in HG syndrome patients and suggests a possibility of defect in the upstream signalling molecules.