Table 3.

Genetic findings associated with AR.

Genea	N (%) of studiesb	N (%) of total patientsb	Abnormality	N (%)	Studies
FOXC1 (6p25)	33 (67.3)	100 (0.9)	Deletion Missense Mutation Ring Chromosome Unbalanced Translocation Duplication Monosomy Unknown	18 (54.5) 4 (12.1) 4 (12.1) 2 (6.0) 2 (6.0) 1 (3.0) 2 (6.0)	[4,11,[15], [16], [17], [18], [19], [20], [21], [22], [23], [24], [25], [26], [27], [28], [29], [30], [31], [32], [33], [34], [35], [36], [37], [38], [39], [40], [41], [42], [43], [44], [45]]
COL4A1 (13q34)	7 (14.3)	83 (0.8)	Missense Mutation Unknown	6 (85.7) 1 (14.3)	[3,39,[46], [47], [48], [49], [50]]
PITX2 (4q25)	5 (10.2)	10,504 (98.2)	Missense mutation Deletion/microdeletion	3 (60) 2 (40)	[4,[11], [12], [13], [14]]
FGFR (8p11)	2 (4.1)	2 (.02)	Missense mutation Unbalanced Translocation	1 (50) 1 (50)	[51,52]
BMP4 (14q22)	1 (2.0)	5 (.05)	Loss of function (Missense, Nonsense, Frameshift)		[53]
21q22.2	1 (2.0)	1 (.01)	Partial Monosomy		[54]

^aFOXC1 = forkhead box protein C1, COL4A1 = collagen type IV alpha 1, PITX2 = pituitary homeobox 2, FGFR = fibroblast growth factor receptor, BMP4 = bone morphogenetic protein 4.

^bThe total number of studies and patients in this table is out of those that included genetic data, which excludes 14 studies [2,6,46,[55], [56], [57], [58], [59], [60], [61], [62], [63], [64], [65], [66]] without data and 2 studies [67,68] with no genetic abnormalities noted.