Table 2 Median age at hearing loss diagnosis of COL4A5 Gly missense variants reported in LOVD for each molecular characteristic.

From: Genotype–phenotype correlations for COL4A3–COL4A5 variants resulting in Gly substitutions in Alport syndrome

 

N hearing loss

Median age at hearing loss diagnosis (years) (95% CI)

p-value

a. All variants (n = 80)

Molecular location

 Exons 1–20 (n = 20)

9

35 (31, ND)

0.85

 Exons 21–53 (n = 60)

33

30 (25, 41)

Collagenous location

 Not adjacent to NC region (n = 72)

40

31 (25, 41)

0.38

 Adjacent to NC region (n = 8)

2

36 (29, ND)

Substituting residue

 Ala/Ser/Cys (n = 20)

8

50 (37, ND)

0.004

 Arg/Val/Glu/Asp/Trp (n = 60)

34

29 (23, 36)

b. Excluding NC boundary variants (n = 72)

Local collagenous location

 Central (n = 56)

32

31 (25, 41)

0.77

 Amino end (n = 7)

4

41 (20, ND)

 Carboxyl end (n = 9)

4

38 (16, ND)

  1. NC, non-collagenous; ND, not done (too few data); 95% CI, 95% confidence interval.
  2. Significant values are in bold.
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