[A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].

OBJECTIVE

To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.

METHODS

Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.

RESULTS

A novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein.

CONCLUSION

A novel c.956 A>T substitution mutation has been identified in a patient featuring MED.