Clinical and molecular study on Fechtner syndrome--case report and literature review / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 160-164, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-328392
ABSTRACT
<p><b>OBJECTIVE</b>To identify clinical and laboratory abnormalities and genetic defect of Fechtner syndrome in a Chinese family.</p><p><b>METHODS</b>The characteristic morphological features of platelets and leukocytes were examined on blood smears with Wright's-Giemsa staining and ultrastructure of platelet and leukocyte were investigated under electron microscope. Genomic DNA was isolated from peripheral blood of the proband and 9 members of his family. All the exons and exon-intron boundaries of the MYH9 gene were amplified by PCR followed by direct sequencing.</p><p><b>RESULTS</b>Patients presented the characteristic clinical features including macrothrombocytopenia, leukocyte inclusions and/or hereditary nephritis. A heterozygous C to T mutation was found in the proband and three members of his family at nucleotide 5981 in exon 40 of MYH9 gene, resulting in a nonsense mutation which encoded truncated protein due to premature termination at the Arg 1933 codon.</p><p><b>CONCLUSION</b>It is the first report of a Chinese family with Fechtner syndrome. The Arg (CGA) 1933--> stop (TGA) nonsense mutation in MYH9 gene is a causative genetic defect.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Syndrome
/
Thrombocytopenia
/
DNA Mutational Analysis
/
Inclusion Bodies
/
Exons
/
Codon, Nonsense
/
Myosin Heavy Chains
/
Molecular Motor Proteins
/
Genetics
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2007
Type:
Article
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