Analysis of a hereditary protein C deficient consanguineous pedigree caused by Phe139Val homozygous mutation.
- VernacularTitle:Phe139Val纯合突变所致遗传性蛋白C缺陷症近亲婚配家系
- Author:
Li-hong YANG
1
;
Li-qing ZHU
;
Ying-yu WANG
;
Hai-xiao XIE
;
Yao-sheng XIE
;
Yan-hui JIN
;
Ming-shan WANG
;
Bi-cheng CHEN
;
Xiao-li YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aged; Consanguinity; Female; Homozygote; Humans; Male; Middle Aged; Mutation; Pedigree; Protein C; genetics; Protein C Deficiency; etiology; genetics
- From: Chinese Journal of Hematology 2013;34(9):767-770
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze genetic mutation and explore its molecular pathogenesis for an hereditary protein C (PC) deficient consanguineous pedigree.
METHODSThe pedigree included three generations and contained eight members. PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were detected for all family members. Protein C gene (PROC) include all the exons and intron exon boundaries were amplified by PCR for the proband, then analyzed by direct sequencing. Mutation sites were detected for the other family members.
RESULTSThe PC:A and PC:Ag in the proband plasma were 20% (normal range 70% -140%) and 13.2% (normal range 70%-130%). A homozygous missense mutation g.6128T>G in exon 7 resulting in Phe139Val was identified in the proband. The PC:A and PC:Ag in her younger brother were 31% and 18.90%, Phe139Val homozygous was also found. The left family members were heterozygous for Phe139Val.
CONCLUSIONPhe139Val homozygous missense mutation in exon 7 of PROC caused serious hereditary protein C deficiency. We speculated that homozygous mutation might be resulted from this consanguineous marriage.
