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

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

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

ISSN: 1755-8794