Background Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy, it can also affect the pericardium. CACP syndrome is caused by mutations in proteoglycan 4 (PRG4), a chondroitin sulfate proteoglycan that acts as a lubricant for the cartilage surface. Several cases were described in the literature from ethnically different populations including Caucasian, Egyptian, Saudi Arabian, Pakistani, Indian and Korean.
Objectives We undertook this study to genetically screen a Chinese family segregating CACP in an autosomal recessive manner.
Methods To screen for mutation in PRG4 gene, all coding exons and exon-intron junctions were sequenced using ABI prism 3730 automated DNA sequencer.
Results Sequence analysis of PRG4 gene in affected individual of the family presented here revealed one base insertion (exon 9, c.3755_3756insT) predicting a frame shift mutation (p.Lys1253fs*1). Sequencing of PRG4 exon 9 in the parents showed that the father was a heterozygous carrier of the c.3755_3756insT mutation, but the mother did not have this alteration. To our knowledge, this is probably the first mutation identified in PRG4 gene in Chinese population.
Conclusions We described a novel insertion mutation in PRG4 gene in a Chinese family with CACP.
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Disclosure of Interest None declared