PURPOSE: To elucidate whether thrombocytopenia in 22q11.2 deletion syndrome patients is associated with the hemizygosity of glycoprotein Ib-beta and to clarify the correlation of phenotype and genotype of this gene in 22q11.2 deletion syndrome patients with thrombocytopenia. METHODS: Platelet number, mean platelet volume, platelet agglutination, and the protein level of glycoprotein Ib-beta were measured in 22q11.2 deletion syndrome patients and controls. Phenotypes other than that of thrombocytopenia were also analyzed in these patients. RESULTS: The 22q11.2 deletion syndrome patients with thrombocytopenia had a larger mean platelet volume, lower agglutination to ristocetin, and lower protein level of glycoprotein Ib-beta than control patients. The 22q11.2 deletion syndrome patients with thrombocytopenia showed an increased risk of developing schizophrenia. CONCLUSIONS: Thrombocytopenia in 22q11.2 deletion syndrome patients is associated with decreased expression of glycoprotein Ib-beta because of the hemizygosity. 22q11.2 deletion syndrome patients with thrombocytopenia require total management, especially for schizophrenia.
PURPOSE: To elucidate whether thrombocytopenia in 22q11.2 deletion syndrome patients is associated with the hemizygosity of glycoprotein Ib-beta and to clarify the correlation of phenotype and genotype of this gene in 22q11.2 deletion syndrome patients with thrombocytopenia. METHODS: Platelet number, mean platelet volume, platelet agglutination, and the protein level of glycoprotein Ib-beta were measured in 22q11.2 deletion syndrome patients and controls. Phenotypes other than that of thrombocytopenia were also analyzed in these patients. RESULTS: The 22q11.2 deletion syndrome patients with thrombocytopenia had a larger mean platelet volume, lower agglutination to ristocetin, and lower protein level of glycoprotein Ib-beta than control patients. The 22q11.2 deletion syndrome patients with thrombocytopenia showed an increased risk of developing schizophrenia. CONCLUSIONS:Thrombocytopenia in 22q11.2 deletion syndrome patients is associated with decreased expression of glycoprotein Ib-beta because of the hemizygosity. 22q11.2 deletion syndrome patients with thrombocytopenia require total management, especially for schizophrenia.
Authors: Marta Unolt; Paolo Versacci; Silvia Anaclerio; Caterina Lambiase; Giulio Calcagni; Matteo Trezzi; Adriano Carotti; Terrence Blaine Crowley; Elaine H Zackai; Elizabeth Goldmuntz; James William Gaynor; Maria Cristina Digilio; Donna M McDonald-McGinn; Bruno Marino Journal: Am J Med Genet A Date: 2018-04-16 Impact factor: 2.802
Authors: N M J Zwifelhofer; R S Bercovitz; L A Weik; A Moroi; S LaRose; P J Newman; D K Newman Journal: J Thromb Haemost Date: 2019-01-22 Impact factor: 5.824
Authors: Rafael Fabiano Machado Rosa; Rosana Cardoso Manique Rosa; Pedro Paulo Albino Dos Santos; Paulo Ricardo Gazzola Zen; Giorgio Adriano Paskulin Journal: Rev Bras Hematol Hemoter Date: 2011
Authors: Bernice E Morrow; Donna M McDonald-McGinn; Beverly S Emanuel; Joris R Vermeesch; Peter J Scambler Journal: Am J Med Genet A Date: 2018-10 Impact factor: 2.802
Authors: Regina E Ensenauer; Adewale Adeyinka; Heather C Flynn; Virginia V Michels; Noralane M Lindor; D Brian Dawson; Erik C Thorland; Cindy Pham Lorentz; Jennifer L Goldstein; Marie T McDonald; Wendy E Smith; Elba Simon-Fayard; Alan A Alexander; Anita S Kulharya; Rhett P Ketterling; Robin D Clark; Syed M Jalal Journal: Am J Hum Genet Date: 2003-10-02 Impact factor: 11.025
Authors: Michelle K Brenner; Shanelle Clarke; Donna K Mahnke; Pippa Simpson; Rachel S Bercovitz; Aoy Tomita-Mitchell; Michael E Mitchell; Debra K Newman Journal: Pediatr Res Date: 2015-10-22 Impact factor: 3.756