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Case Reports
. 2008 Jun;80(6):540-4.
doi: 10.1111/j.1600-0609.2008.01046.x. Epub 2008 Feb 13.

Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders

Shinji Kunishima  1 , Tadashi Matsushita, Motohiro Hamaguchi, Hidehiko Saito
Affiliations
Case Reports

Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders

Shinji Kunishima et al. Eur J Haematol. 2008 Jun.

Abstract

MYH9 disorders are autosomal dominant macrothrombocytopenias with leukocyte inclusion bodies. Single point mutations in the protein-coding sequence of the MYH9 gene are the most common cause. So far no large gene deletion/insertion and splicing defects have been reported. Conventional DNA sequencing of each MYH9-coding exon showed no abnormalities in a patient. Reverse transcription- polymerase chain reaction (PCR) amplification and sequencing of neutrophil mRNA identified an inframe deletion of exon 25. Further long-range PCR amplification of genomic DNA revealed a deletion of 1220 nucleotides including entire exon 25. Immunoblot analysis showed a small, abnormal protein in neutrophils but not in platelets. This is the first report of a large deletion of the MYH9 gene leading to the development of MYH9 disorders.

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