title: A new case of combined factor V and factor VIII deficiency further suggests that the LMAN1 M1T mutation is a frequent cause in Italian patients.
abstract: Combined factor V and factor VIII deficiency (F5F8D) is an extremely rare worldwide congenital hemorrhagic disorder that is more prevalent in the Mediterranean area. We report the clinical presentations and the identification of a LMAN1 mutation in a 3-year-old Italian boy who was diagnosed with F5F8D. The mutation identified (M1T) has already been found in several Italian patients. Since the LMAN1 M1T mutation has been identified in most patients with F5F8D, we suggest that the search for this mutation should be the first step in the molecular characterization of patients from an Italian ethnic background.
authors.affiliation: Cattedra di Genetica Medica, Dipartimento di Scienze Biomediche, Università di Foggia, Foggia, Italy.
authors.forename: Rosa
authors.initials: R
authors.lastname: D'Ambrosio
authors.forename: Rosa
authors.initials: R
authors.lastname: Santacroce
authors.forename: Pasquale
authors.initials: P
authors.lastname: Di Perna
authors.forename: Michela
authors.initials: M
authors.lastname: Sarno
authors.forename: Arturo
authors.initials: A
authors.lastname: Romondia
authors.forename: Maurizio
authors.initials: M
authors.lastname: Margaglione
mesh_terms: D002675:Child, Preschool; D005166:Factor V Deficiency / Q000209:etiology / Q000235:genetics*; D005168:Factor VII Deficiency / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D037241:Mannose-Binding Lectins / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation
chemical_list: C084004:LMAN1 protein, human; D037241:Mannose-Binding Lectins; D008565:Membrane Proteins