Skip to main content

Table 1 Genomic changes and dysmorphic outer ear phenotypes across species

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

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