Table 2 Additional variants in Usher genes.

From: Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Family

Patient

Age*

Sex

Onset HL (yrs)

Onset VI (yrs)

Gene

Mutation

Protein

 

Reported

Segregation

6

TO7

21

F

2

10

MYO7A

c.6424G > A

p.Asp2142Asn

Heterozygous

Reported

YES

      

ADGRV1

c.6133G > A

p.Gly2045Arg

Heterozygous

Novel

 
      

CDH23

c.4858G > A

p.Val1620Met

Heterozygous

Reported

 

7

TO8

54

M

6

30

ADGRV1

c.11272C > A

(p.Gln3758Lys)

Heterozygous

Novel

Not done

9

TO11

31

M

3 mo

19

USH2A

c.1407G > A

(p.Gly4692Arg)

Heterozygous

Reported

YES

11

TO14

45

M

7

20

CDH23

c.4858G > A

(p.Val1620Met)

Heterozygous

Reported

YES

12

TO15

33

F

7

7

USH2A

c.688G > A

(p.Val230Met)

Heterozygous

Reported

YES

13

TO16

12

M

Cong

1

ADGRV1

c.6133G > A

(p.Gly2045Arg)

Heterozygous

Novel

YES

13

TO17

23

M

18mo

4

ADGRV1

c.6133G > A

(p.Gly2045Arg)

Heterozygous

Novel

YES

14

TO18

30

M

6

16

USH2A

c.5858C > G

(p.Ala1953Gly)

Heterozygous

Reported

YES

      

USH2A

c.14527 A > G

(p.Arg4843Gly)

Heterozygous

Novel

 

15

TO19

20

M

11mo

17

ADGRV1

c.11974G > A

(p.Asp3992 Asn)

Heterozygous

Novel

YES

  1. HL = hearing loss; VI = visual impairment; *Age at counselling and genetic testing; M = male; F = female; yrs = years; mo = months; cong = congenital
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