RGD Reference Report - Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families. - Rat Genome Database

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Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.

Authors: Koskela, S  Partanen, J  Salmi, TT  Kekomaki, R 
Citation: Koskela S, etal., Eur J Haematol. 1999 Mar;62(3):160-8.
RGD ID: 10450819
Pubmed: PMID:10089893   (View Abstract at PubMed)

Bernard-Soulier syndrome (BSS) is a rare hereditary bleeding disorder and macrothrombocytopenia which is caused by a defect in the platelet glycoprotein Ib/IX/V (GP Ib/IX/V) complex, the receptor for von Willebrand factor and thrombin. Here we report the molecular basis of the classical form of BSS in two unrelated Finnish patients, both with a life-long history of severe bleeding. Flow cytometry and immunoblotting showed no expression of GP Ib/IX, GP Ib alpha, GP Ib beta or GP IX (less than 10%) in the patients' platelets. No expression of GP V (< 10%) was observed in propositus 1, but a residual amount was found in propositus 2 (24%). DNA sequencing analysis revealed that propositus 1 was compound heterozygous for a two-base-pair deletion at Tyr505(TAT) and a point mutation Leu129(CTC)Pro(CCC) in the GP Ib alpha gene. Propositus 2 was homozygous for the Tyr505(TAT) deletion. The nine relatives who were heterozygous for either of the mutations also had low levels of GP Ib alpha (74-90%). Hence, Bernard-Soulier patients homozygous or compound heterozygous for Tyr505(TAT) are severely affected. Interestingly, both mutations have independently been found in three other families in previous reports, suggesting their ancient age or mutational 'hot spot'.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bernard-Soulier syndrome  IAGP 10450819DNA:missense mutation more ...RGD 
Bernard-Soulier syndrome  ISOGP1BA (Homo sapiens)10450819; 10450819DNA:missense mutation more ...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