title: [A case of dysfibrinogenemia without hemorrhagic diathesis or thromboembolism linked to a new mutation p.H103N in fibrinogen γ chain].
abstract: This work describes a dysfibrinogenemia linked to a new mutation in the gene coding for fibrinogen γ chain. Dysfibrinogenemia was fortuitously discovered in a 9-year old boy consulting for symptoms suggesting meningitis. DNA was extracted from blood, the fibrinogen genes coding for Aα, Bβ and γ chains were sequenced, and compared with consensus sequences. Apart from the patient, dysfibrinogenemia and the mutation p.H103N in the γ chain of fibrinogen with heterozygous status were found in his mother, without any symptom. This mutation is unknown in fibrinogen variant databases and seems to affect mostly fibrin polymerisation. The reporting of this new p.H103N mutation in the γ chain has a great interest for improving the knowledge of the fibrinogen gene and its expression. Even if no haemorrhage was observed in this case, the expression of this mutation impaired the function of the molecule, particularly polymerisation, and could induce bleeding during an important surgery.
authors.affiliation: Service d'hématologie biologique, Centre hospitalier universitaire de Nancy, Vandœuvre-les-Nancy, France. j.devignes@chu-nancy.fr
authors.forename: Jean
authors.initials: J
authors.lastname: Devignes
authors.forename: Michel
authors.initials: M
authors.lastname: Hanss
authors.forename: Angéline
authors.initials: A
authors.lastname: Chabaud
authors.forename: Marie
authors.initials: M
authors.lastname: Toussaint-Hacquard
authors.forename: Ludovic
authors.initials: L
authors.lastname: Mansuy
authors.forename: Philippe
authors.initials: P
authors.lastname: De Mazancourt
authors.forename: Thomas
authors.initials: T
authors.lastname: Lecompte
mesh_terms: D000225:Adenine; D000347:Afibrinogenemia / Q000235:genetics*; D001216:Asparagine / Q000235:genetics*; D002648:Child; D003062:Codon / Q000235:genetics; D003596:Cytosine; D005077:Exanthema Subitum / Q000175:diagnosis; D005340:Fibrinogen / Q000235:genetics*; D015241:Fibrinogens, Abnormal / Q000235:genetics; D015654:Herpesvirus 6, Human / Q000302:isolation & purification; D006579:Heterozygote; D006639:Histidine / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D003062:Codon; D015241:Fibrinogens, Abnormal; D006639:Histidine; D001216:Asparagine; D003596:Cytosine; D005340:Fibrinogen; D000225:Adenine
keywords: dysfibrinogenemia; fibrinopeptide A; fibrinopeptide B; hemorrhagic diathesis; thrombosis