期刊
EUROPEAN JOURNAL OF HAEMATOLOGY
卷 84, 期 4, 页码 291-297出版社
WILEY
DOI: 10.1111/j.1600-0609.2009.01398.x
关键词
MYH9-related disease; MYH9 gene; mutational screening; missense mutation; frame-shift mutation; coiled-coil structure
类别
资金
- Telethon Foundation [GGP06177]
- Italian Ministry of Health Italian ISS (Istituto Superiore di Sanit)
- IRCCS Burlo Garofolo [34/07]
- Medical Research Council [MC_U117584256] Funding Source: researchfish
- MRC [MC_U117584256] Funding Source: UKRI
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. All patients present congenital macro-thrombocytopenia and inclusion bodies in neutrophils. Some of them can also develop sensorineural deafness, presenile cataract, and/or progressive nephropathy leading to end-stage renal failure. We report four families, each with a novel mutation: two missense mutations, in exons 31 and 32, and two out of frame deletions in exon 40. They were associated with no bleeding diathesis, normal, or only slightly reduced platelet count and no extra-hematological manifestations, confirming that alterations of the tail domain cause a mild form of MYH9-RD with no clinically relevant defects.
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