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

Table 4 Genotypic distribution of SPAID-associated missense mutation MTBP:g.19383758G > A

Phenotype	Number of Shar Pei (n)	Genotype G/G	Genotype G/A	Genotype A/A
Age group (>6 years)
SPAID affected Shar-Pei	46	0	17	29
SPAID unaffected Shar-Pei	11	3	8	0
All age groups (1–14 years)
SPAID affected Shar-Pei	102	0	32	70
SPAID unaffected Shar-Pei	62	10	28	24
Muzzle types (all age groups)
meatmouth	132	3	41	88
bonemouth	32	7	19	6

None of the affected Shar-Pei older than six years showed the wild type genotype G/G whereas none of the unaffected Shar-Pei of this group harboured the disease associated genotype A/A. Regardless of the muzzle type both genotypes G/G or A/A could be found in meatmouth and bonemouth Shar-Pei types

ISSN: 1471-2164