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

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.

journal_name

Eur J Haematol

authors

Kunishima S,Matsushita T,Hamaguchi M,Saito H

doi

10.1111/j.1600-0609.2008.01046.x

subject

Has Abstract

pub_date

2008-06-01 00:00:00

pages

540-4

issue

6

eissn

0902-4441

issn

1600-0609

pii

EJH1046

journal_volume

80

pub_type

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