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Table 4 Genotype-phenotype correlations of USH patients with both mutations found in this study

From: Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations

Patient Mutations Year of Birth Diagnosis Age of diagnosis Sensorineural Hearing Loss Vestibular Function Onset of Night Blindness Onset of Visual Field Loss Visual Field Visual Acuity Eye Fundus ERG Cataracts
RP1310* c.12067-2A > G/c.12067-2A > G   USHNC           
RP1274* p.E1492X/p.E1492X 1969 USH2   Moderate-severe and stable NormalA      1   
RP1633 p.E1492X/p.E1492X 1962 USH2 25 Since infancy NormalA 25 25 Concentric loss 0,2/0,4 1 No response BE
RP1607 p.G3546R/p.G3546R 1925 USH2 33 Mild-moderate NormalA 16 25 Marked concentric loss 0,6/0,6 1 Moderate alteration BE
RP1599* c.1214delA/c.1214delA 1980 USH2   Moderate, since infancy NormalA 20 30 Moderate concentric loss 0,6/0,7 1 Moderate alteration BE
RP259 c.1214delA/p.C3267R 1974 USHA 19 Profound since 6 years Vestibular Dysfunction A 6   Concentric loss (19 years) 0,35/0,35 (19 years) 1 No response No (19 years)
RP1349 c.2299delG/c.1214delA 1954 USH2   Moderate-severe NormalB 15 20 Marked concentric loss 0,4/0,3 (30 years) 2   
RP1493 c.2299delG/c.8890dupT 1973 USH2 30 Congenital, moderate and stable NormalB 29 29 Concentric loss (at 31 years) Normal (31 years) 1 No response (31 years) No (31 years)
RP1632 c.2299delG/c.8954delG 1961 USH2   Since infancy NormalB 23 25   <0,1BE 2 No response BE
RP1715* c.2299delG/c.1629_1645del 1986 USH2 22 Moderate and stable since 6 years NormalB 16 20 Slight concentric loss (at 25 years) Normal (25 years) 1 No response No
RP1775 c.2299delG/p.R303H # 1961 USHA 30 Moderate since 7 years and progressive   23 22      
RP1618 p.C3267R/c.6319_6324delinsTAAA 1964 USH2   Severe-profound NormalA 30 30 Marked concentric loss 0,1/0,1 2 No response BE
RP1442* p.C3267R/c.12093delC 1962 USH2 20 Congenital, moderate and stable NormalB 15 20 Concentric loss, 5° (at 43 years) 0,5/0,2 (43 years) 2   LE (37 years) RE (43 years)
RP1703* p.C3267R/p.C3358Y 1936 USHA 50 Since 64 years   50 55 Reduced (67 years)   1   Yes
RP1759 p.C3267R/p.Y1992C# 1945 USH2 62 Congenital, moderate and stable NormalB   62     Abnormal response Yes (62 years)
RP1625* c.12067-2A > G/p.R274X 1976 USH2 25 Since infancy NormalA 19 24 Concentric loss 0,1/0,1 2 No response BE
RP1631 c.1841-2A > G/p.R274X 1976 USH2   Since infancy NormalA 28 28 Concentric loss 0,7/0,6 1   No
RP951 c.1214delA/p.C3251X 1969 USH2 25 Congenital, severe and stable NormalB 25 18 Reduced (23 years)   2 No response (30 years) No (30 years)
RP1558 p.R1549X/c.1328 + 1G > T 1933 USH2 43 Severe and progressive since 20 years NormalB Before puberty   -10°C 0,007/0.03 2   
RP1539* p.R1295X/p.N3894D# 1987 USH2 20 Congenital, moderate and stable NormalB 20 17 Concentric loss (20 years)   2   
RP1172* c.10272_10273dupTT/p.W2618X 1964 USH2 23 Moderate and stable since 7 years NormalB 23 18 Concentric loss (38 years)    No response (39 years)  
RP1641* p.C759F/p.W4725X 1967 USHA   Moderate and progressive Central vestibular pathology A 18 22 Marked concentric loss 0,1/0,2 2 No response BE
RP1667* p.C759F/c.11548 + 2T > G 1954 USH2 15 Mild and slightly progressive NormalB 15 8      RE (30 years)
RP690M* p.P4818L/p.Q3368X + c.5278delG 1972 USH2 22 Congenital, moderate and stable NormalA 22 8   0,3/0,3 (32 years) 1 No response (31 years) BE (25 years)
RP532 p.Y506X/p.Q3587X 1968 USH2   Profound NormalA 15 20 Marked concentric loss 0,1/0,1 2 No response BE
RP946* p.Q3587X/p.E2496E 1982 USHNC 17          
RP1613 c.9260delT/p.G44R 1971 USH2 30 Severe NormalA 20 20 Marked concentric loss 0,1/0,6 2 Abnormal response BE
RP1615 c.11566delA/c.15053-1G > A 1975 USH2 27 Moderate since infancy NormalA 24 25 Marked concentric loss 0,5/0,5 2 No response BE
  1. * Parental origin of the mutations was determined; #Patients with possibly pathogenic mutations (UV3).
  2. Age of diagnosis, onset of night blindness and visual field loss are expressed in years.
  3. A: results of clinical examinations; B: self reported symptoms.
  4. Eye fundus 1: Bone spicules deposits, attenuation of vessels and waxy pollar of the optic nerve head. Eye fundus 2: 1 + macular affectation.
  5. ERG: Electroretinography; BE: Both Eyes; LE: Left Eye; RE: Right Eye.
  6. Patients clinically classified as USHA or USHNC are highlighted in bold.