A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs

BMC Genomics

Table 1 GJA9 c.1103_1104delAG genotype frequencies in three Leonberger cohorts

Polyneuropathy status	Total	wt/wt (homozygous normal; N/N)	wt/del (heterozygous; D/N)	del/del (homozygous mutant; D/D)
GWAS cohort	314	0.82 (258)	0.16 (51)	0.02 (5)
Affected^a	176	0.72 (127)	0.25 (44)	0.03 (5)
Non-affected^a,b	138	0.95 (131)	0.05 (7)	0
Follow-up cohort	608	0.87 (527)	0.13 (79)	0.003 (2)
Affected^a	296	0.79 (235)	0.20 (59)	0.006 (2)
Non-affected^a,b	312	0.94 (292)	0.06 (20)	0
Total	7455	0.94 (6995)	0.06 (443)	0.002 (17)
Affected^a	474	0.76 (362)	0.22 (105)	0.02 (7)
Non-affected^a,b	450	0.94 (423)	0.06 (27)	0
Unknown^c	6533	0.95 (6210)	0.05 (313)	0.002 (10)

^aOnly dogs that were homozygous wild type or heterozygous ARHGEF10 carriers
^bOnly dogs ≥8 years old that showed no signs of PN
^cDogs without known phenotype status that were submitted for diagnostic purposes

ISSN: 1471-2164