title: [Mutation analysis for a large Chinese family affected with MYH9-related thrombocytopenia].
abstract: OBJECTIVE
  To analyze the clinical manifestations and mutation of MYH9 gene in a large Chinese family affected with MYH9-related thrombocytopenia.
  
  
  METHODS
  After informed consent was obtained; clinical examination and history investigation was performed on 29 members of the family. DNA was extracted using a standard method, then exons 1 to 40 and their corresponding exon-intron junctions of the MYH9 gene were amplified with PCR and subjected to Sanger sequencing. The results were compared to reference sequence from the University of California, Santa Cruz (UCSC) to screen the mutation. PCR and Sanger sequencing was performed on genome DNA of all family members to confirm the identified mutation.
  
  
  RESULTS
  The clinical manifestations of family members were prominently heterogeneous. Four affected members showed hearing loss or deafness, two affected members showed nephritis or kidney failure, and other affected members was only characterized by mild bleeding or with no obvious symptoms. A heterozygous missense mutation c.4270G>A (p.Aspl841Asn) in exon 30 of the MYH9 gene was identified in all affected members from this family, which also co-segregated with the phenotype.
  
  
  CONCLUSIONS
  A missense mutation c.4270G>A (p.Aspl841Asn) within the exon 30 of the MYH9 gene was identified to be associated with MYH9-related thrombocytopenia in a Chinese family.
authors: Institute of Medical Genetics, People's Hospital of Zhengzhou University (Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China. Email: liuhongyanqhhy@126.com.
authors: Hongyan
authors: H
authors: Liu
authors: Tao
authors: T
authors: Li
authors: Hongdan
authors: H
authors: Wang
authors: Liangjie
authors: L
authors: Guo
authors: Dong
authors: D
authors: Wu
authors: Hai
authors: H
authors: Xiao
authors: Qiannan
authors: Q
authors: Guo
authors: Tao
authors: T
authors: Wang
mesh_terms: D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000208:ethnology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D020125:Mutation, Missense; D018995:Myosin Heavy Chains / Q000235:genetics*; D010375:Pedigree; D017386:Sequence Homology, Amino Acid; D013921:Thrombocytopenia / Q000208:ethnology / Q000235:genetics*
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains