Thrombocytopenia in patients with 22q11.2 deletion syndrome and its association with glycoprotein Ib-beta.

Abstract

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: Taichi Kato, Kazuki Kosaka, Misa Kimura, Shin-Ichiro Imamura, Osamu Yamada, Kazumasa Iwai, Masahiko Ando, Kunitaka Joh-o, Kenji Kuroe, Akira Ohtake, Atsuyoshi Takao, Kazuo Momma, Rumiko Matsuoka
• Journal: Genetics in medicine : official journal of the American College of Medical Genetics (Genet Med) 2003 Mar-Apr Vol. 5 Issue 2 Pg. 113-9 ISSN: 1098-3600 [Print] United States
• PMID: 12644781 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Platelet Glycoprotein GPIb-IX Complex

Topics

• Adolescent
• Adult
• Blotting, Western
• Child
• Child, Preschool
• Chromosome Deletion
• Chromosomes, Human, Pair 22
• Female
• Humans
• In Situ Hybridization, Fluorescence
• Male
• Phenotype
• Platelet Count
• Platelet Glycoprotein GPIb-IX Complex (genetics)
• Sequence Analysis, DNA
• Thrombocytopenia (blood, genetics)