Table 2 Genotype and clinical characteristics of patients with USH2A-related disease (replication cohort)

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

Subject

USH2A sequencing results

Likely effect of allele

Diagnosis

 

Variant 1

Variant 2

Variant 1

Variant 2

 

R1

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

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

Retina-specific

Retina-specific

Nonsyndromic retinitis pigmentosa

R2

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

c.1225T>C, p.(Trp409Arg)

Retina-specific

Unknown (novel)

Nonsyndromic retinitis pigmentosa

R3

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

c.9912dup, p.(Glu3305Argfs*41)

Retina-specific

Unknown

Nonsyndromic retinitis pigmentosa

R4

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

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

Retina-specific

Usher

Nonsyndromic retinitis pigmentosa

R5

c.99_100insT, (p.Arg34Serfs*41)

c.2802T>G, p.(Cys934Trp)

Unknown

Retina-specific

Nonsyndromic retinitis pigmentosa

R6

c.5776G>A, p.(Glu1926Lys)

c.10073G>A, p.(Cys3358Tyr)

Usher

Retina-specific

Nonsyndromic retinitis pigmentosa

R7

c.5776G>A, p.(Glu1926Lys)

c.10073G>A, p.(Cys3358Tyr)

Usher

Retina-specific

Nonsyndromic retinitis pigmentosa

R8

c.1256G>T, p.(Cys419Phe)

c.11156G>A, p.(Arg3719His)

Usher

Retina-specific

Nonsyndromic retinitis pigmentosa

R9

c.1256G>T, p.(Cys419Phe)

c.11156G>A, p.(Arg3719His)

Usher

Retina-specific

Nonsyndromic retinitis pigmentosa

R10

c.11864G>A, p.(Trp3955*)

c.12580T>C, p.(Cys4194Arg)

Usher

Unknown (novel)

Nonsyndromic retinitis pigmentosa

R11

c.8254G>A, p.(Gly2752Arg)

c.15178T>C, p.(Ser5060Pro)

Usher

Unknown (novel)

Nonsyndromic retinitis pigmentosa

R12

c.4378G>A, p.(Gly1460Arg)

c.9424G>T, p.(Gly3142*)

Unknown (novel)

Usher

Nonsyndromic retinitis pigmentosa

R13

c.6904_6920dup17

c.12877G>A, p.(Gly4293Ser)

Unknown (novel)

Unknown (novel)

Nonsyndromic retinitis pigmentosa

R14

c.9611A>G, p.(His3204Arg)

c.13768G>A, p.(Gly4590Ser)

Unknown (novel)

Unknown (novel)

Nonsyndromic retinitis pigmentosa

R15

c.1876C>T, p.(Arg626*)

c.1876C>T, p.(Arg626*)

Usher

Usher

Usher syndrome

R16

c.1256G>T, p.(Cys419Phe)

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

Usher

Usher

Usher syndrome

R17

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

c.14287G>A, p.(Gly4763Arg)

Usher

Usher

Usher syndrome

R18

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

c.14287G>A, p.(Gly4763Arg)

Usher

Usher

Usher syndrome

R19

c.2209C>T, p.(Arg737*)

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

Usher

Usher

Usher syndrome

R20

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

c.5168-2A>G

Usher

Unknown (novel)

Usher syndrome

R21

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

c.5858-1G>A

Usher

Unknown (novel)

Usher syndrome

R22

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

c.14180G>A, p.(Trp4727*)

Usher

Unknown (novel)

Usher syndrome

R23

c.1679delC, p.(Pro560Leufs*31)

c.11549-1G>A

Unknown

Unknown (novel)

Usher syndrome

R24

c.854T>C, p.(Ile285Thr)

c.10724G>A, p.(Cys3575Tyr)

Unknown (novel)

Usher

Usher syndrome

R25

c.2081G>C, p.(Cys694Ser)

c.10612C>T, p.(Arg3538*)

Unknown (novel)

Unknown (novel)

Usher syndrome

  1. Retina-specific corresponds to likely ‘retinal disease-specific’ alleles (shown in bold).
  2. Usher corresponds to likely ‘Usher syndrome type II’-specific alleles.
  3. Novel corresponds to alleles that are novel to this study. Of these novel changes, the following are found in the Exome Aggregation Consortium (ExAC) browser (accessed 31 December 2014): c.12580T>C (1/122018), c.15178T>C (4/122952 alleles), c.4378G>A (3/122140) and c.9611A>G (22/122680). Segregation analysis was performed in subjects R12, R20 and R22 and has confirmed that the reported variants are in trans.
  4. Numbering of USH2A variants has been assigned in accordance with NCBI Reference Sequence NM_206933.2.
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