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Table 1 Comparison of clinical features in our patient and others previously reported with the PUF60 mutation

From: Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature

Clinical phenotypes Patient 1 Previous reported with PUF60 variants
(n = 24)[2, 4,5,6,7,8,9]
Previous reported with 8q24.3 deletion
(n = 7)[1, 2]
Gestation
 Pre-term + 3/18 NA
 Full-term   15/18 1/1
Height (z score < 2 SD) + 16/23 7/7
Renal 6/22 4/7
Coloboma 8/23 4/7
Cardiac 13/21 5/7
Skeletal 15/23 5/7
Hand anomalies 11/20 4/7
Joint laxity 11/19 5/7
Feeding + 10/17 5/7
ID (intellectual disability) + 24/24 5/6
Auditory 8/14 1/5
Hypertrichosis 5/12 NA
Facial feature
 Long philtrum + 16/23 7/7
 Thin upper lip + 15/23 7/7
 Micro-retrognathism + 13/22 4/7
 Short neck + 14/22 5/7
 Wide nasal bridge + 9/22 6/7