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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 typesMissenseSplicingTruncationP value
Cases123560 
Male/Female5/720/1530/300.692
Age, years16.0 ± 13.8 (1.0–45.0)23.2 ± 15.2 (2.3–62.0)21.0 ± 17.1 (0.3–63.0)0.301
Cataract18.2%37.1%13.8%0.004*
High myopia68.8%87.8%72.8%0.510
RD27.3%45.5%42.4%0.575
Arthropathy50.0%48.5%25.5%0.010*
HL12.5%30.3%11.3%0.022*
Midfacial dysplasia87.5%60.6%56.9%0.246
Cleft palate37.5%28.6%31.0%0.743
  1. RD retinal detachment; HL: hearing loss; *: P < 0.05