RGD Reference Report - Novel genetic abnormalities in Bernard-Soulier syndrome in India. - Rat Genome Database

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Novel genetic abnormalities in Bernard-Soulier syndrome in India.

Authors: Ali, S  Ghosh, K  Shetty, S 
Citation: Ali S, etal., Ann Hematol. 2014 Mar;93(3):381-4. doi: 10.1007/s00277-013-1895-x. Epub 2013 Sep 1.
RGD ID: 10450796
Pubmed: PMID:23995613   (View Abstract at PubMed)
DOI: DOI:10.1007/s00277-013-1895-x   (Journal Full-text)

Bernard-Soulier syndrome (BSS) is a severe inherited bleeding disorder due to defects in GPIb/IX/V, a platelet receptor that normally functions as a platelet membrane receptor for von Willebrand factor, thrombin and factor XI. BSS results from mutations in GP1BA, GP1BB or GP9 genes. In 15 patients with Bernard-Soulier syndrome from Western India, we amplified the entire coding sequences of GP1BA, GP1BB and GP9 genes and directly sequenced them. Twelve homozygous changes have been identified, out of which ten were novel mutations. These included eight frameshift mutations, i.e. p.Asp79GlufsX2, p.Phe314PhefsX37, p.Pro93ProfsX59, p.Asp89GlufsX63, p.Glu489AsnfsX64, p.Phe355PhefsX4, p.Leu479PhefsX19 and p.Leu531ArgfsX22, one missense mutation (p.Val262Gly) in GPIBA and one nonsense mutation (p.Tyr95X) in GP9. The two known changes include one missense mutation (p.Cys24Arg) in GP9 and one nonsense change (p.Trp46X) in GPIBB. A wide heterogeneity in the nature of mutations has been observed in Indian BSS patients in the present study. Identification of mutations in this rare platelet function disorder would pave way for genetic diagnosis in affected families in India, where consanguineous marriages are very common.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Bernard-Soulier syndrome  IAGP 10450796DNA:missense mutation: :p.V262G (c.785T>G) (human)RGD 
Bernard-Soulier syndrome  ISOGP1BA (Homo sapiens)10450796; 10450796DNA:missense mutation: :p.V262G (c.785T>G) (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