NLRP3 genotyping in the family of the patient with Muckle-Wells syndrome harbouring the germline p.Thr348Met NLRP3 mutation
| Family Member | Sample (year) | NLRP3 genotypeby Sanger-based sequencing* | Massively parallel DNA sequencing | ||
|---|---|---|---|---|---|
| NLRP3 genotype | Mutated allelefrequency (%) | Coverage† | |||
| Patient | Peripheral blood (2003) | p.Thr348Met / wt | p.Thr348Met/wt | 44.4‡ | 1042× |
| Father | Peripheral blood (2003) | wt/wt | wt/wt | 0‡ | 1156× |
| Mother | Peripheral blood (2003) | wt/wt | p.Thr348Met/wt | 2.8§ | 1385× |
| Peripheral blood (2012) | wt/wt | p.Thr348Met/wt | 2.4‡ | 1300× | |
| Urine (2012) | wt/wt | p.Thr348Met/wt | 8.2‡ | 2000× | |
| Mucosal swabs (2012) | wt/wt | p.Thr348Met/wt | 6.9‡ | 1578× | |
Written, informed consent from the patients’ parents and approval by the Ethics Committee of Hospital Clinic were obtained to perform these genetic analyses.
*Reference sequence NM_001243133.1.
†The coverage value represents the means of all independent duplicates or triplicates.
‡Values are the means of duplicates.
§Value is the mean of triplicates.
wt, wild type.