title: [Analysis of gene mutation in a family featuring autosomal dominant May-Hegglin anomaly].
abstract: OBJECTIVE
  To analyze clinical features and mutation in MYH9 gene for a family featuring autosomal dominant May-Hegglin anomaly.
  
  
  METHODS
  Clinical and pathological features of all family members were analyzed. Blood samples were collected from the proband and other family members, and genomic DNA was extracted. Potential mutations of MYH9 gene exons 10, 25, 26, 30, 38 and 40 were screened with PCR and direct sequencing. After a mutation was identified in the proband, other affected members as well as healthy members from this family were analyzed with a pair of primers to amplify the mutant site. The PCR products were digested with Taq I enzyme and analyzed with agarose gel electrophoresis.
  
  
  RESULTS
  All affected members had bleeding tendency and typical features including giant platelets, thrombocytopenia and characteristic Dohle body-like leukocyte inclusions. A heterozygous missense mutation c.5521G>A (p.Glu1841Lys) in exon 38 of the MYH9 gene was identified in all affected members from this family.
  
  
  CONCLUSIONS
  The variant, c.5521G>A (p.Glu1841Lys) of MYH9, has co-segregated with the phenotype in the family. The mutant site is a hot spot in Chinese population.
authors.affiliation: Key Laboratory for Experimental Teratology of the Ministry of Education, Department of Medical Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, P.R. China.
authors.forename: Yapei
authors.initials: Y
authors.lastname: Feng
authors.forename: Xiaofan
authors.initials: X
authors.lastname: Guo
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Jiangxia
authors.initials: J
authors.lastname: Li
authors.forename: Zhonglu
authors.initials: Z
authors.lastname: Liu
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Zhu
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006319:Hearing Loss, Sensorineural; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics* / Q000151:congenital
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains