Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID).

Validation of genetic variants Validation of all nine potentially deleterious genetic variants detected in whole genome sequencing data in 102 SPAID-affected and 62 SPAID-unaffected Shar-Pei using Kompetitive Allele Specific PCR (KASP) and gel electrophoresis revealed a borderline significant P-value for TGFBR3 :g.57204844A > G located in TGFBR3 (transforming growth factor beta receptor 3; P = 0.050), but a highly significant P-value for MTBP :g.19383758G > A (P = 2.664E-06) located in MTBP (Mdm2, transformed 3 T3 cell double minute 2, p53 binding protein ).

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