Table 3 Summary of phenotypes associated with the previously reported USH2A variants that were identified in the present series

From: A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Change in USH2A

Number of previously reported cases

References

 

Nonsyndromic retinitis pigmentosa

Usher type II

Atypical Usher

Usher. type I

Usher type III

Asymptomatic

 

c.2276G>T, p.(Cys759Phe)

96 (12 hom)

14

5

1a

—

1 (hom)

8, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26

c.2299delG, p.(Glu767Serfs*21)

58

327 (46 hom)

6 (3 hom)

—

1

—

8, 9, 10, 11, 15, 16, 17, 19, 20, 21, 22, 24, 25, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43

c.2332G>T p.(Asp778Tyr)

—

1

—

—

—

—

35

c.2802 T>G, p.(Cys934Trp)

1

—

—

—

—

—

44

c.3902G>T, p.(Gly1301Val)

—

—

—

1*

—

—

40

c.5776+1G>A

—

4

—

—

1

—

21, 24, 25, 40

7595-3C>G, p.Pro2533Asnfs*5

—

5

—

—

—

—

8, 20, 45

c.9371+1G>C

—

1

—

—

—

—

8

c.10073 G>A, p.(Cys3358Tyr)

5

—

1

—

—

—

5, 8, 23, 26, 41

c.11156 G>A, p.(Arg3719His)

1

—

—

—

—

—

5

c.12295-3 T>A

—

—

1b

—

—

—

8

c.12575 G>A, p.(Arg4192His)

4 (1 hom)

—

1c (hom)

—

—

—

5, 8, 23, 26

c.13010C>T, p.(Thr4337Met)

—

2

—

—

—

—

5, 35

c.13316C>T, p.(Thr4439Ile)

—

5

—

—

—

—

8, 21, 46

c.14426C>T p.(Thr4809Ile)

—

3

—

—

—

—

8, 36

  1. Numbering of USH2A variants has been assigned in accordance with NCBI Reference Sequence NM_206933.2. The complete list of references can be found in LOVD-USHBase.
  2. aA single heterozygous variant in MYO7A was also reported in this patient; *a homozygous (hom) variant in MYO7A was also reported in this patient.
  3. bAfter reviewing the clinical data, the patient was categorised as atypical due to adult onset of hearing loss (45 years old) and normal speech.
  4. cAfter reviewing the clinical data, the patient was categorised as atypical due to very mild, progressive hearing loss.
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