Premium
Bernard‐Soulier syndrome: Common ancestry in two African American families with the GP Ibα Leu129Pro mutation
Author(s) -
Antonucci John Vito,
Martin Eric S.,
Hulick Peter J.,
Joseph Abraham,
Martin S. Eric
Publication year - 2000
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/1096-8652(200010)65:2<141::aid-ajh9>3.0.co;2-h
Subject(s) - bernard–soulier syndrome , genetics , mutation , biology , phenotype , point mutation , gene , microbiology and biotechnology , glycoprotein
Bernard‐Soulier syndrome (BSs) is a rare bleeding disorder characterized by circulating giant platelets, thrombocytopenia, and a prolonged bleeding time. BSs usually has an autosomal recessive inheritance pattern, with a preponderance of Caucasian and Japanese ancestry when the ethnic background has been reported. Underlying this disorder of platelet function is a defect in the platelet glycoprotein (GP) Ib‐IX‐V complex, composed of four polypeptides, GP Ibα, GP Ibβ, GP IX, and GP V. Molecular characterization of individuals with BSs has identified mutations in the GP Ibα, GP Ibβ, and GP IX genes responsible for the expressed phenotype. In this study, we report a family of African‐American descent, with autosomal recessive BSs showing a point mutation in codon 129 of the GP Ibα gene. This mutation, C T C:wild‐type to C C C:mutant, is similar to that of another African American family where the resulting leucine to proline substitution in the 5 th leucine‐rich repeat of GP Ibα is responsible for the observed BSs phenotype. Comparison of the intragenic polymorphisms of GP Ibα, as well as microsatellite markers in a 17.5 cM region of chromosome 17p12 that contains the GP Ibα gene, suggests that, although socially unrelated, the Leu129Pro mutation in these two families has a common founder. Am. J. Hematol. 65:141–148, 2000. © 2000 Wiley‐Liss, Inc.