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Table 4 Distribution of the pathogenic and presumably pathogenic mutations

From: Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

 

Pathogenic and presumably pathogenic mutations (Novel mutations)

MYO7A

26 (7)

USH1C

3 (1)

CDH23

8 (5)

PCDH15

2 (1)

USH1G

3 (2)

USH2A

25 (9)

VLGR1

11 (11)

WHRN

3 (3)

USH3A

0