Table 1 Hearing phenotypes associated with FOXC1 pathogenic variants

c.26–47ins(p.Ser9fs*89)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.67C > T (p.Gln23*)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.210delG(p.Gln70fs*73)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.235C > A(p.Pro79Thr)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.245G > C (p.Ser82Thr)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.317delA (p.Gln106Argfs*75)

Normal hearing

−

−

−

−

−

−

c.325A > G(p.Met109Val)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.335del(p.Phe112Serfs*69)

Hearing loss

N/A

N/A

Unilateral

N/A

N/A

N/A

c.339 T > C (p.Tyr115Ser)

Hearing loss

Conductive

N/A

N/A

N/A

N/A

N/A

c.344A > C(p.Tyr115Ser)

Hearing loss

Conductive

N/A

N/A

N/A

N/A

N/A

c.437_453del17(p.Pro146fs)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.454 T > C(p.Trp152Arg)

Hearing loss

N/A

N/A

N/A

Mild

N/A

N/A

c.457A > C (p.Thr153Pro)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.477C > G(p.Tyr159*)

Hearing loss

Sensorineural

N/A

Bilateral

N/A

Progressive

N/A

c.478_482dupAACAT(p.Met161Ilefs*22)

Hearing loss

Sensorineural

N/A

N/A

N/A

N/A

N/A

c.481A > G(p.Met161Val)

Hearing loss

Conductive

N/A

N/A

N/A

N/A

N/A

c.487G > T(p.Glu163*)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.506G > C(p.Arg169Pro)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.508C > T(p.Arg170Trp)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.516_518delGCG (p.Arg173del)

Hearing loss

Conductive

5 yo

Bilateral

Mild

Reversible

ALL frequencies

c.719delT(p.Leu240Argfs*75)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

c.1193_1196dup(p.Met400Serfs*129)

Hearing loss

N/A

Congenital

N/A

N/A

N/A

N/A

c.1491C > G (p.Tyr497*)

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

deletion incl entire gene & GMDS

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

deletion 6,610 kb incl. entire gene

Hearing loss

Sensorineural

N/A

Bilateral

N/A

N/A

N/A

Translocation t(6;8)(p25;q24.1)

Hearing loss

N/A

N/A

N/A

Mild

N/A

N/A

Deletion ~ 12 Mb incl entire gene, FOXQ, FOXF2 & others

Hearing loss

N/A

N/A

N/A

Severe

N/A

N/A

deletion 2.2–2.4 Mb incl entire gene

Hearing loss

Mixed

N/A

N/A

N/A

N/A

N/A

deletion 4.7 Mb incl. entire gene

Hearing loss

Conductive(due to chronic glue ear)

N/A

N/A

N/A

N/A

N/A

1.3 Mb del incl gene & 3 others, 0.52 Mb dup incl 13 genes

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

1.10 Mb del incl entire gene, GMDS & part of LOC340156

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

0.98 Mb deletion incl entire gene & GMDS

Hearing loss

N/A

N/A

N/A

N/A

N/A

N/A

Deletion 34 kb incl. entire gene(1,551,415–1,585,522)

Hearing loss

N/A

N/A

N/A

N/A

Progressive

N/A

Translocation t(2;6)(p32;q24)

Hearing loss

N/A

N/A

N/A

N/A

Progressive

N/A

Deletion 3.4 Mb incl. entire gene(566,884–3,960,186)

Hearing loss

Conductive

N/A

N/A

N/A

N/A

N/A

Deletion ~ 2.7 Mb incl entire gene & 9 others(6p25.2-pter)

Hearing loss

Sensorineural

N/A

N/A

Mild

N/A

N/A

Deletion 5.0–5.7 Mb incl. entire gene

Hearing loss

Sensorineural

N/A

Bilateral

N/A

N/A

N/A

Deletion 6.57 Mb (6p25.1-pter)

Hearing loss

Sensorineural

N/A

Bilateral

Mild to moderate

N/A

Low-frequency

Deletion 2.6 Mb incl. entire gene(0–2,646,377)

Hearing loss

Conductive(due to middle ear malformations)

N/A

N/A

N/A

N/A

N/A

Deletion ~ 8 Mb incl entire gene, FOXQ, FOXF2 & others

Hearing loss

N/A

N/A

N/A

Severe

N/A

N/A

1.5 Mb deletion

Normal hearing

−

−

−

−

−

−

6p25-6pter deletion

Normal hearing

−

−

−

−

−

−

3.9 Mb deletion

Normal hearing

−

−

−

−

−

−