title: [Clinical and molecular study on Fechtner syndrome--case report and literature review].
abstract: OBJECTIVE
  To identify clinical and laboratory abnormalities and genetic defect of Fechtner syndrome in a Chinese family.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Jiangsu Institute of Hematology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
authors.forename: Hai-Yan
authors.initials: HY
authors.lastname: Yang
authors.forename: Zhao-Yue
authors.initials: ZY
authors.lastname: Wang
authors.forename: Yan-Hua
authors.initials: YH
authors.lastname: Su
authors.forename: Li-Juan
authors.initials: LJ
authors.lastname: Cao
authors.forename: Xia
authors.initials: X
authors.lastname: Bai
authors.forename: Chang-gen
authors.initials: CG
authors.lastname: Ruan
mesh_terms: D000328:Adult; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000235:genetics; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains