title: [Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].
abstract: OBJECTIVE
  To detect potential mutation in a Chinese family affected with autosomal-dominant synpolydactyly and to provide the basis for prenatal diagnosis.
  
  
  METHODS
  Inheritance pattern was determined by clinical examination and pedigree analysis. Blood samples were obtained from members of the family. Genomic DNA was extracted and sequenced following PCR amplification. Suspected mutation was confirmed by subclone sequencing and agarose gel electrophoresis.
  
  
  RESULTS
  A 27 bp expansion mutation in exon 1 of HOXD13 was identified in all affected individuals from the family but not in unaffected members and normal controls. The mutation has caused insertion of 9 alanines in the polyalanine-expansion region of HOXD13 protein.
  
  
  CONCLUSIONS
  A polyalanine-expansion within the HOXD13 probably underlies the disease in this family.
authors.affiliation: Key Laboratory of Experimental Teratology, Ministry of Education, Institute of Molecular Medicine and Genetics, Shandong University School of Medicine, Jinan, Shandong 250012, P. R. China. liuqiji@sdu.edu.cn.
authors.forename: Yan
authors.initials: Y
authors.lastname: Li
authors.forename: Qian
authors.initials: Q
authors.lastname: Xin
authors.forename: Shan
authors.initials: S
authors.lastname: Shan
authors.forename: Jiangxia
authors.initials: J
authors.lastname: Li
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D013576:Syndactyly / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C513184:HOXD13 protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors