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Table 5 Molecular diagnosis of Bernard Soulier syndrome patients

From: Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study

Patients with molecular diagnosis

Gene

Inheritance

Mutation

Reference

BSS-1

GP9

Homozygous

p.Trp71Arg

new

BSS-2

GP1BA

Homozygous

p.Cys209Ser

[34]

BSS-3

GP1BA

Possibly Heterozygous

p.Gln90_Leu92del

new

-

-

BSS-4

GP9

Homozygous

p.Asn45Ser

[33],[36]

BSS-5

GP9

Homozygous

p.Phe55Ser

[35]

BSS-6

GP9

Homozygous

p.Phe55Ser

[35]

BSS-7

GP9

Homozygous

p.Phe55Ser

[35]

BSS-8

GP1BB

Homozygous

p.Pro90Ser

new

  1. Abbreviations: BS bleeding score, BSS Bernard Soulier Syndrome.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172