Molecular classification

Locus

Location

Gene

References

OMIM entry

USH1A

(14q32 )

non existent

Kaplan et al., 1992 ; Gerber et al., 2006

276900

USH1B

11q13.5

MYO7A

Weil et al.,1995

276903

USH1C

11p15.1

USH1C

Smith et al., 1992 ; Verpy et al., 2000 ; Bitner-Glindzicz et al., 2000

276904

USH1D

10q22.1

CDH23

Wayne et al., 1996 ; Bork et al., 2001 ; Bolz et al., 2001

601067

USH1E

 21q21

unknown

Chaib et al., 1997

602097

USH1F

10q21-22

PCDH15

Ahmed et al., 2001 ; Alagramam et al., 2001

602083

USH1G

17q24-25

SANS

Mustapha et al., 2002 ; Weil et al., 2003

606943

USH1H

15q22-23

unknown

Ahmed et al., 2009

612632

USH1J (see note A) 15q23-q25.1 CIB2  (refuted, see note A) Riazuddin et al., 2012 Booth et al., 2017 614869
USH1K 10p11.21-q21.1 unknown Jaworek et al., 2012 614990

USH2A

1q41

USH2A

Kimberling et al., 1990 ; Eudy et al., 1998

276901

USH2B

3p23-24.2.

unknown

Hmani et al., 1999

 

USH2C

5q14.3-q21.3

VLGR1

Pieke-Dahl et al., 2000 ;  Weston et al., 2004

605472

USH2D

9q32

WHRN

Ebermann et al., 2007

611383

USH3

3q21-q25

CLRN1

Sankila et al., 1995 ; Joensuu et al., 2001

276902
606397

USH3B 5q31.3 HARS Puffenberger et al., 2012 614504

Modifier Gene (see note B)

10q24.31 PDZD7 Ebermann et al., 2010


 

 

 


 

Note A: CIB2 cases autosomal recessive non-syndromic hearing loss; its role in Usher syndrome has been refuted, see Booth et al., 2017
Note B: PDZD7 causes autosomal recessive non-syndromic hearing loss; its role in Usher syndrome has been called in to question see Booth et al., 2015