Your browser doesn't support javascript.
loading
Hereditary protein C deficiency caused by novel compound heterozygous mutants in a Chinese pedigree: A case report.
Li, Yi; Cai, Ruimin; Wang, Wenyang; Feng, Qiang; Gao, Xue; Liu, Ping; Liu, Meirong; Qi, Chunling.
  • Li Y; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
  • Cai R; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
  • Wang W; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
  • Feng Q; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China. Electronic address: fengqiang915@163.com.
  • Gao X; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
  • Liu P; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
  • Liu M; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
  • Qi C; Department of Clinical Laboratory, Taian Central Hospital, Taian 271000, Shandong Province, China.
Transfus Apher Sci ; 58(5): 685-687, 2019 Oct.
Article en En | MEDLINE | ID: mdl-31521534
ABSTRACT
Purpura fulminans (PF) is a neonatal presentation of homozygous or compound heterozygous protein C (PC) deficiency; infants who are diagnosed with it are determined to have a major defect in coagulation regulation which is associated with undetectable levels of PC. We report a pedigree who suffered from the hereditary PC deficiency with compound heterozygous mutants; genetic analysis revealed compound heterozygous mutations of 262 G > T(Asp88Tyr) and 400 + 5G > A that were identified in the proband; moreover, Asp88Tyr and 400 + 5G > A were also detected in the father and the mother, respectively. A bioinformatics analysis revealed 262 G > T is probably damaging, and structural analysis indicated a possible mechanism for the functional impairment of PC in this pedigree.
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Linaje / Deficiencia de Proteína C / Mutación Missense / Pueblo Asiatico / Púrpura Fulminante Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Linaje / Deficiencia de Proteína C / Mutación Missense / Pueblo Asiatico / Púrpura Fulminante Tipo de estudio: Prognostic_studies Límite: Female / Humans / Infant País como asunto: Asia Idioma: En Año: 2019 Tipo del documento: Article