A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.</p><p><b>METHODS</b>Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>A novel c.956 A>T substitution mutation has been identified in a patient featuring MED.</p>