Genotypic and phenotypic character of Chinese neonates with congenital protein C deficiency: a case report and literature review

Table 2 Summary of Clinical Characteristics and Laboratory Results for Neonatal Congenital Protein C Deficiency Cases Reported during the Past 40 Years in China

Case	Year	Sex	Age	GA (wk)	BW	Clinical Symptom			PC Level (%) (ref: 70~140%) Patient Mother Father			Mutation
Case	Year	Sex	Age	GA (wk)	BW	Skin	Thromb	Hemorrhage	PC Level (%) (ref: 70~140%) Patient Mother Father			Mutation
1	1988	male	19 h	term	–	yes	–	cranial	no	no	no	not investigated
2	2012	male	10 h	39	–	yes	–	no	22	61	53	not investigated
3	2015	female	38 h	35^+ 6	2300	yes	cerebral eyes	cranial	8.0^a	51^a	60^a	not investigated
4	2015	female	1 day	39^+ 6	2780	yes	cerebral	no	< 1	49	53	c.755C > T(P. 252.A > V)^c intron5 + 5G > A^d
5	2017	male	1 day	term	–	yes	yes	no	4	43	50	exon8(c.795_796insA)^c exon9(c.1206_1207insG)^d
6^b	2018	female	43 h	34	2300	yes	yes	no	0.8	48.7	64.7	exon4 c.262G > T p. (Asp99Tyr)^c intron5c.400 + 5G > A P?^d

^aReference range 60–140%
^b Denotes our current case
^c Mutation inherited from father
^dMutation inherited from mother
Abbreviations: BW birth weight, GA gestational age, PC protein C, ref., reference range, Thromb thrombosis, wk. weeks

ISSN: 1477-9560