Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0149871 (
deep vein thrombosis
)
12,364
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Deep venous thrombosis
(
DVT
) remains a serious clinical problem that affects millions of people worldwide. Some
DVT
cases are caused by inherited thrombophilia derived from genetic aberrations and several disease-causing genes have been identified so far. Among them,
HRG
is an uncommon one with limited related reports. Here, we reported on a family with early-onset
DVT
where acquired risky conditions were excluded. Whole exome sequencing revealed a novel heterozygous single base pair substitution in exon 2 of
HRG
gene resulting in a conserved residue replacement of the protein (c. C271T, p. P73S). Sanger sequencing confirmed the co-segregation of the mutation and plasma quantification determined circulating protein deficiency. The mutation might therefore impair hemostatic balance by causing reduced circulating
HRG
level. Our study broadens the mutation spectrum of the
HRG
gene and underscores the importance of its function in regulating coagulation pathway.
...
PMID:Familial early-onset deep venous thrombosis associated with a novel HRG mutation. 2910 64
