Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly

Shay Fabbro, Walter H.A. Kahr, Jesse Hinckley, Kai Wang, Jack Moseley, Gi Yung Ryu, Brie Nixon, James G. White, Thomas Bair, Brian Schutte, Jorge Di Paola

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18 Scopus citations

Abstract

Gray platelet syndrome (GPS) is an inherited bleeding disorder characterized by thrombocytopenia and the absence of α-granules in platelets. Patients with GPS present with mild to moderate bleeding and many develop myelofibrosis. The genetic cause of GPS is unknown. We present 2 Native American families with a total of 5 affected persons and a single affected patient of Pakistani origin in which GPS appears to be inherited in an autosomal recessive manner. Homozygosity mapping using the Affymetrix 6.0 chips demonstrates that all 6 GPS-affected persons studied are homozygous for a 1.7-Mb region in 3p21. Linkage analysis confirmed the region with a logarithm of the odds score of 2.7. Data from our families enabled us to significantly decrease the size of the critical region for GPS from the previously reported 9.4-Mb region at 3p21.

Original languageEnglish
Pages (from-to)3430-3434
Number of pages5
JournalBlood
Volume117
Issue number12
DOIs
StatePublished - Mar 24 2011
Externally publishedYes

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    Fabbro, S., Kahr, W. H. A., Hinckley, J., Wang, K., Moseley, J., Ryu, G. Y., Nixon, B., White, J. G., Bair, T., Schutte, B., & Di Paola, J. (2011). Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. Blood, 117(12), 3430-3434. https://doi.org/10.1182/blood-2010-12-322990