Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia

Table 1 Genomic changes and dysmorphic outer ear phenotypes across species

Phenotype description	Phenotype/disease entry	Species	Genomic changes	Inheritance	References
Enlarged ear pinnae with a distinctive ventrolateral shift, microphthalmic anomalies	Dumbo (dmbo)	Mouse	Nonsense mutation in Hmx1 exon1	Recessive	Munroe et al. [1]
Laterally-protruding ears and microphthalmic anomalies	Misplaced ears (mpe)	Mouse	8 bp deletion in Hmx1 exon2	Recessive	Munroe et al. [1]
Congenital malformations of the pinna and modest reduction in ocular size	Dumbo (dmbo)	Rat	5777 bp deletion encompassing Hmx1-ECR	Recessive	Quina et al. [2]
Moderately to severely truncated ear	Crop ear	Highland cattle	76 bp Hmx1-ECR duplication	Dominant	Koch et al. [29]
Shorter and thicker ear	Short ear	Altay sheep	76 bp Hmx1-ECR duplication	Dominant	He et al. [30]
Ophthalmic anomalies and external ear abnormalities	Oculoauricular syndrome (OAS)	Human	26 bp deletion in HMX1 coding region	Recessive	Schorder et al. [10]
Bilateral external ear malformation/cup ear	Concha type microtia	Human	Duplications involving HMX1-ECR	Dominant	This study

ISSN: 1479-5876