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Table. 4 Studies related to the mutation spectrum of CC obtained using NGS in the past 5 years

From: The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing

 

Our cohort

Li et al., 2018 [37]

Gillespie et al., 2014 [17]

Ma et al., 2016 [19]

Zhai et al., 2017 [18]

Target genes

792 inherited eye diseases

80 cataract-associated genes

115 genes associated with CC

32 cataract -associated genes

54 cataract-associated genes

Detection rate

Familial, 87.5% sporadic, 27.03%

familial, 75% sporadic, 47.8%

70%

70%

62.96%

Participants

38 sporadic and 16 familial cases, 42 bilateral and 12 unilateral

23 sporadic and 16 familial cases, all bilateral

15 sporadic and 21 familial cases all bilateral 16 syndromic

24 sporadic and 22 familial cases all bilateral nonsyndromic

25 familial and 2 sporadic