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 Previous Article | Table of Contents
Blood, 15 February 2001, Vol. 97, No. 4, pp. 1147-1149
BRIEF REPORT
Mutations in the NMMHC-A gene cause autosomal
dominant macrothrombocytopenia with leukocyte
inclusions (May-Hegglin anomaly/Sebastian syndrome)
Shinji Kunishima,
Tetsuhito Kojima,
Tadashi Matsushita,
Toshihiro Tanaka,
Masahito Tsurusawa,
Yoshio Furukawa,
Yukitsugu Nakamura,
Takashi Okamura,
Norihiko Amemiya,
Takayuki Nakayama,
Tadashi Kamiya, and
Hidehiko Saito
From the First Department of Internal Medicine, Nagoya
University School of Medicine, Showa-ku, Nagoya, Japan; Japanese Red
Cross Aichi Blood Center, Seto, Japan; Department of Medical
Technology, Nagoya University School of Health Sciences, Higashi-ku,
Nagoya, Japan; Laboratory of Molecular Medicine, Human Genome Center,
Institute of Medical Science, University of Tokyo, Minato-ku, Tokyo,
Japan; Department of Pediatrics, Aichi Medical University, Aichi-gun,
Japan; Department of Internal Medicine, Sakai Municipal Hospital,
Sakai, Japan; Third Department of Internal Medicine, National Defense
Medical College, Tokorozawa, Saitama , Japan; First Department of
Internal Medicine, Faculty of Medicine, Kyushu University, Higashi-ku,
Fukuoka, Japan; Central Clinical Laboratory, Yamanashi Medical
University, Tamaho-cho, Nakakoma-gun, Yamanashi, Japan; and the Aichi
Blood Disease Research Foundation, Moriyama-ku, Nagoya, Japan.
Macrothrombocytopenia with leukocyte inclusions is a rare autosomal
dominant platelet disorder characterized by a triad of giant platelets,
thrombocytopenia, and characteristic Döhle body-like leukocyte
inclusions. A previous study mapped a locus for the disease on
chromosome 22q12.3-q13.2 by genome-wide linkage analysis. In addition,
the complete DNA sequence of human chromosome 22 allowed a positional
candidate approach, and results here indicate that the gene
encoding nonmuscle myosin heavy chain-A, NMMHC-A, is
mutated in this disorder. Mutations were found in 6 of 7 Japanese families studied: 3 missense mutations, a nonsense mutation, and a
one-base deletion resulting in a premature termination.
Immunofluorescence studies revealed that NMMHC-A distribution in
neutrophils appeared to mimic the inclusion bodies. These results
provide evidence for the involvement of abnormal NMMHC-A in the
formation of leukocyte inclusions and also in platelet morphogenesis.
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