RESUMO
Objective To setup a platform for genetic diagnosis of Cryopyrin associated periodic syndrome (CAPS) and to use it for clinical diagnosis.Methods The peripheral blood cells of the patient and the controls were collected for DNA extraction.Nine exons of CAPS associated gene NLRP3 were amplified using polymerase chain reaction (PCR) and subjected to sequencing.Blast was used to compare the sequencing results with the reference gene and to locate mutation.The clinical information of the patient was collected and the relevant literature was reviewed.Results We set up a platform for exon sequencing of NLRP3 gene.Using this platform,we identified a nonsynonymous mutation in a female patient (D303N,aspartic acid at locus 303 mutated to asparagine).Considering the clinical manifestations of the patient,chronic infantile neurologic cutaneous and articular syndrome (CINCA) was diagnosed.Conclusion The set up of the platform for NLRP3 genetic analysis will facilitate the clinical awareness and research on CAPS.