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