Table 3. Genes identified in human syndromes with microtia as a major feature.

Human syndrome	Gene(s) identified
Oculoauriculovertebral spectrum	HMX1
Treacher Collins	TCOF1, POL1RC, POL1RD
Craniofacial Microsomia	GSC
Branchio-oto	SIX1, EYA1
Branchio-oto-renal	SIX5, EYA1
Townes–Brock	SALL1
Nager	SF3B4
Mandibulofacial dysostosis with microcephaly	EFTUD2
Auriculocondylar	PLCB4, GNAI3
CHARGE	CHD7
Lacrimo-auriculo-dental-digital	FGFR2, FGFR3, FGF10
Kabuki	MLL2, KDM6A
Fraser	FRAS1, FREM2, GRIP1

Note: The underlined genes are also present in animal studies.