RGD Reference Report - Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. - Rat Genome Database

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Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

Authors: Savoia, A  Balduini, CL  Savino, M  Noris, P  Del Vecchio, M  Perrotta, S  Belletti, S  Poggi, S  Iolascon, A 
Citation: Savoia A, etal., Blood. 2001 Mar 1;97(5):1330-5.
RGD ID: 10450832
Pubmed: PMID:11222377   (View Abstract at PubMed)

A form of autosomal dominant macrothrombocytopenia is characterized by mild or no clinical symptoms, normal platelet function, and normal megakaryocyte count. Because this condition has so far received little attention, patients are subject to misdiagnosis and inappropriate therapy. To identify the molecular basis of this disease, 12 Italian families were studied by linkage analysis and mutation screening. Flow cytometry evaluations of platelet membrane glycoproteins (GPs) were also performed. Linkage analysis in 2 large families localized the gene to chromosome 17p, in an interval containing an excellent candidate, the GPIbalpha gene. GPIbalpha, together with other proteins, constitutes the plasma von Willebrand factor (vWF) receptor, which is altered in Bernard-Soulier syndrome (BSS). In 6 of 12 families, a heterozygous Ala156Val missense substitution was identified. Platelet membrane GP studies were performed in 10 patients. Eight were distinguished by a reduction of GPs comparable to that found in a BSS heterozygous condition, whereas the other 2, without the Ala156Val mutation, had a normal content of platelet GPs. In conclusion, the current study provides evidence that most (10 of 12) patients with an original diagnosis of autosomal dominant macrothrombocytopenia shared clinical and molecular features with the heterozygous BSS phenotype. The remaining 2 affected subjects represented patients with "true" autosomal dominant macrothrombocytopenia; the GPIb/IX/V complex was normally distributed on the surface of their platelets. Thus, the diagnosis of heterozygous BSS must always be suspected in patients with inherited thrombocytopenia and platelet macrocytosis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bernard-Soulier Syndrome, Autosomal Dominant  IAGP 10450832DNA:missense mutation: :p.A156V (515C>T) (human)RGD 
Bernard-Soulier Syndrome, Autosomal Dominant  ISOGP1BA (Homo sapiens)10450832; 10450832DNA:missense mutation: :p.A156V (515C>T) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Gp1ba  (glycoprotein Ib platelet subunit alpha)

Genes (Mus musculus)
Gp1ba  (glycoprotein 1b, alpha polypeptide)

Genes (Homo sapiens)
GP1BA  (glycoprotein Ib platelet subunit alpha)


Additional Information