期刊
JOURNAL OF HUMAN GENETICS
卷 55, 期 12, 页码 844-846出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2010.114
关键词
FLNA; macrothrombocytopenia; periventricular heterotopia; p.V528M
资金
- Japan Society for the Promotion of Science [18591094, 20591161]
- Ministry of Health, Labour and Welfare [19C-2]
- Mitsubishi Pharma Research Foundation
- National Hospital Organization
- Grants-in-Aid for Scientific Research [20591161, 18591094] Funding Source: KAKEN
Filamin A is encoded by the FLNA gene on chromosome Xq28 and functions in cross-linking actin filaments into orthogonal networks in the cortical cytoplasm. FLNA p.V528M was initially detected in a female autopsy case of X-linked bilateral periventricular nodular heterotopia (BPNH), a neuronal migration disorder characterized by subependymal nodules of gray matter. During our mutation analysis of FLNA in a boy with apparent X-linked thrombocytopenia, we detected the p.V528M variant. The patient, mother and sister, who were heterozygous for the substitution, did not have BPNH. We observed an allele frequency of 4.8% in healthy control Japanese, but did not observe the variant in Caucasian subjects. Hemizygous controls had a normal platelet count and size. We suggest that p. V528M is neither associated with BPNH nor with thrombocytopenia and giant platelets, and represents a functional polymorphism. Journal of Human Genetics (2010) 55, 844-846; doi:10.1038/jhg.2010.114; published online 16 September 2010
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