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Table 1 The Difference of Phenotypes in Patients with Different Mutation Types

From: Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review

Mutation types

Missense

Splicing

Truncation

P value

Cases

12

35

60

 

Male/Female

5/7

20/15

30/30

0.692

Age, years

16.0 ± 13.8 (1.0–45.0)

23.2 ± 15.2 (2.3–62.0)

21.0 ± 17.1 (0.3–63.0)

0.301

Cataract

18.2%

37.1%

13.8%

0.004*

High myopia

68.8%

87.8%

72.8%

0.510

RD

27.3%

45.5%

42.4%

0.575

Arthropathy

50.0%

48.5%

25.5%

0.010*

HL

12.5%

30.3%

11.3%

0.022*

Midfacial dysplasia

87.5%

60.6%

56.9%

0.246

Cleft palate

37.5%

28.6%

31.0%

0.743

  1. RD retinal detachment; HL: hearing loss; *: P < 0.05