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Table 2 Clinical and genetic data in the patients with biallelic CDH23 mutations

From: High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss

Case ID* 1 Age at the latestexamination Genotypes* 2 Vision Fundoscopy Motor milestones* 3
1 25y11m p.P240L / p.P240L Normal Not done Normal
2 25y7m p.P240L / p.P240L Normal Not done Normal
3 25y2m p.P240L / p.P240L Normal Not done Normal
4 24y2m p.P240L / p.P240L Normal Not done Normal
5 17y3m p.P240L / p.R2029W Normal Normal Normal
6 14y1m p.E2438K / p.N3044Tfs Normal Not done Normal
7 13y3m p.P240L / p.R2029W Myopia Normal Normal
8 13y2m p.D1626A / p.L2223Wfs Normal Not done Normal
9 13y1m p.P240L / p.P240L Normal Not done Normal
10 11y8m p.P240L / p.P240L Normal Not done Normal
11 11y4m p.E2438K / p.N3044Tfs Normal Not done Normal
12 11y2m p.D645G / p.E956K Normal Not done Normal
13 9y7m p.P240L / p.E956K Myopia Normal Normal
14 9y2m p.Q1716P / p.E2438K Normal Not done Normal
15 8y5m p.P240L / p.E956K Normal Not done Normal
16 7y3m p.P240L / p.E956K Normal Not done Normal
17 7y0m p.P240L / p.P240L Normal Not done Normal
18 6y4m p.P346S / p.Q1716P Normal Not done Normal
20 5y9m p.P240L / c.6712 + 1G > A Normal Not done Normal
21 3y10m p.P240L / c.6712 + 1G > A Hyperopia Normal Normal
  1. *1Cases were shown in the order of their ages at the latest examination.
  2. *2Genotypes written by bold word indicate truncating mutations.
  3. *3Motor milestones: Head control < 4 months, Walking alone < 14 months.