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

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

Case Year Sex Age GA (wk) BW Clinical Symptom PC Level (%) (ref: 70~140%)
Patient Mother Father
Mutation
Skin Thromb Hemorrhage
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 8.0a 51a 60a 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 > Ad
5 2017 male 1 day term yes yes no 4 43 50 exon8(c.795_796insA)c
exon9(c.1206_1207insG)d
6b 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
  1. aReference range 60–140%
  2. b Denotes our current case
  3. c Mutation inherited from father
  4. dMutation inherited from mother
  5. Abbreviations: BW birth weight, GA gestational age, PC protein C, ref., reference range, Thromb thrombosis, wk. weeks