22q11.2欠失症候群と血小板減少およびその機能異常

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Patients with del22q11.2 syndrome sometimes show thrombocytopenia, bleeding episodes and psychiatric disorders. The glycoprotein (Gp) Ibβ gene, which encodes a subunit of the major platelet receptor for von Wille brand factor and the disease gene for Bernard-Soulier syndrome (BSS), a recessive congenital bleeding disorder, is located in the deleted region of chromosome 22q11.2. Therefore, to elucidate phenotype/genotype correlation among the above-mentioned conditions in del22q11.2 syndrome patients and hemizygosity of the GpIbβ gene, we performed platelet function tests and gene analysis in such patients. The results showed a significant decrease in the number of platelets in the del22q11.2 syndrome patients compared with the patients with similar congenital heart disease but without the deletion. Also, del22q11.2 syndrome patients with a decreased number of platelets had abnormal platelet function as seen in BSS patients, commonly had a distal breakpoint in deletion size confirmed by fluorescence in situ hybridization, had no homozygous point mutation or deletion as seen in BSS patients and frequently suffered from psychiatric disorders. These findings suggest that half the amount of GpIbβ in del22q11.2 syndrome patients compared to normal may lead to a decrease in platelets and functional abnormalities and that psychiatric disorders should be considered in del22q11.2 syndrome patients with a decreased number of platelets.
東京女子医科大学の論文
2001-01-25

22q11.2欠失症候群と血小板減少およびその機能異常

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