Table 1 Overall distribution of probands and identified gene variants

Asian/Non-Hispanic

Vietnam and India

SIX1

AD

c.533G > C

p.Arg178Thr

Het

Black/Non-Hispanic

African American/USA

COL2A1

AD

c.626G > A

p.Arg209Gln

Het

Bahamas/Haiti/DR

COL11A1

AD

c.3816 + 1 G > A

N/A

Het

Haiti/Denmark/Portugal/France

EYA1

AD

c.966 + 5 G > T

N/A

Het

Dominica/Haiti + Bahamas

OTOF

AR

c.2122C > T

p.Arg708*

C. Het

c.1966delC

p.Arg656Glyfs*10

African American

OTOGL

AR

c.2566_2569delAATT

p.Asn856Valfs*8

Het

c.5992 + 5 G > A

N/A

African American/Jamaica

RTN4IP1

AR

c.308 G > A

p.Arg103His

C. Het

c.890 A > G

p.Tyr297Cys

African American/Haiti

MYO15A

AR

c.8019delG

p.His2674Thrfs*64

Het

c.8065delT

p.Trp2689Glyfs*49

White/Hispanic

Colombia

ATP6V1B1

AR

c.1248 + 1G > C

N/A

Hom

Puerto Rico

CABP2

AR

c.590 T > C

p.Ile197Thr

Hom

Cuba

COL11A1

AD

c.5009_5013delGTTGG

p.Ser1670Ilefs*2

Het

Venezuela/Nicaragua

COL2A1

AD

c.870 + 1G > A

N/A

Het

Dominican Republic

COL4A4

AR

c.2219dupC

p.Val741Cysfs*47

Hom

Cuba

EYA1

AD

c.1653 T > A

p.Tyr551*

Het

Colombia

GATA3

AD

DEL_Chr10:460,302–11,345,840

(including GATA3)

N/A

Het

Colombia/Jamaica/China

GJB2

AR

c.299_300delAT

p.His100Argfs*14

C. Het

c.596 C > T

p. Ser199Phe

Brazil/Cuba

GJB2

AR

c.139 G > T

p.Glu47Ter

C. Het

c.35delG

p.Gly12Valfs*2

Spain/Cuba/France

GJB2

AR

c.35delG

p.Gly12Valfs*2

Hom

Cuba

GJB2

AR

c.35dupG

p.Val13Cfs*35

C. Het

c.35delG

p.Gly12Valfs*2

Puerto Rico/Cuba

GJB2

AR

c.35delG

p.Gly12Valfs*2

Hom

Cuba/Colombia

GJB2

AR

c.109 G > A

p.Val37Ile

C. Het

c.35delG

p.Gly12Valfs*2

Colombia

MT-RNR1

Mit

m.1555A > G

N/A

Hmp

Puerto Rico

MYO15A

AR

c.7226delC

p.Pro2409Glnfs*8

Hom

Peru

MYO7A

AR

c.2263-1G > T

N/A

C. Het

c.4920delC

p.Glu1842fs

Honduras

MYO7A

AR

c.73G > A

p.Gly25Arg

Hom

Cuba/Spain

OTOF

AR

c.2485C > T

p.Gln829*

C. Het

AR

c.2348delG

p.Gly783Alafs*17

Mexico

OTOG

AR

c.6559 C > T

p.Arg2187*

Het

c.8047 + 3 G > T

N/A

Italy/Spain/Mexico

PCDH15

AR

c.4211 + 1G > T

N/A

C. Het

c.3877C > T

p.Arg1293Trp

Cuba

STRC and CATSPER2

AR

15q15.3 Deletion

N/A

Hom

Mexico/Sweden

STRC and CATSPER2

AR

15q15.3 Deletion

N/A

Hom

Cuba/Spain/Europe AJ

SUMF1

AR

c.463 T > C

p.Ser155Pro

Het

c.539 G > T

p.Trp180Leu

Italy/Greece/Cuba/Spain

TBC1D24

AD/AR

c.724 C > T

p.Arg242Cys

C. Het

c.641 G > A

p.Arg214His

Cuba

TMC1

AR

c.236 + 1 G > A

N/A

C. Het

c.1939 T > C

p.Ser647Pro

Cuba

TMPRSS3

AR

c.208delC

p.His70Thrfs*19

Hom

Cuba/Argentina

USH2A

AR

c.7475C > T

p.Ser2492Leu

C. Het

Deletion in Exon 70

N/A

White/Non-Hispanic

Europe/Italy

ACTG1

AD

c.773C > T

p.Pro258Leu

Het

Eastern Europe/Russia/AJ

AIFM1

XL

c.1412 G > A

p.Gly471Glu

Hem

Europe

CDH23

AR

c.1515-12G > A

N/A

C. Het

c.3598G > T

p.Asp1200Tyr

Colombia/White

COL4A5

XL

c.4976 + 3A > G

N/A

Hem

Southern Europe/AJ

GJB2

AR

c.35delG

p.Gly12Valfs*2

C. Het

DEL_Chr13:20,797,176–21105944

N/A

Ukraine

GJB2

AR

c.35delG

p.Gly12Valfs*2

Hom

White

GJB2

AR

c.269 T > C

p.Leu90Pro

Het

309 kb deletion GJB6-D43S1830

N/A

Scotland/Germany/Ireland Native American/American Eskimo

GJB2

AR

c.35delG

p.Gly12Valfs*2

Hom

Europe

GJB2

AR

c.35delG

p.Gly12fs*2

Hom

England/Wales/Scotland/Ireland

GJB2

AR

c.35delG

p.Gly12Valfs*2

Hom

Poland/Hungary/Czech/AJ

LARS2

AR

c.180 G > C

p.Glu60Asp

Hom

Palestine

LRP2

AR

c.11581 T > C

p. Cys3861Arg

Hom

England/German/France

MYO6

AD/AR

c.2867 + 1 G > A

N/A

Het

Russia

MYO7A

AR

c.5101 C > T

p.Arg1701*

Het

c.849 + 1 G > A

N/A

Het

Germany/England

MYO7A

AD

c.2164 G > C

p.Gly722Arg

Het

Ireland/Netherlands

SLC26A4

AR

c.85G > C

p.Glu29Gln

Het

c.1544 + 3_1544 + 6delGAGT

N/A

Germany/Ukraine/Italy/Mexico

SLC26A4

AR

c.165–1 G > A

N/A

Het

c.707 T > C

p.Leu236Pro

Brazil

WFS1

AD

c.409_424dupGGCCGTCGCGAGGCTG

p.Val142Glyfs*110

Het

England/Italy/Ireland/Scotland

Mitochondrial genome

Mit

m.8649_16084del17436

N/A

Htp. 15%