title: [Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].
abstract: OBJECTIVE
  To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of the ROR2 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Furthermore, the PCR products showing mutation were cloned into pMD18T vector and the insert fragments were sequenced.
  
  
  RESULTS
  A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB.
  
  
  CONCLUSIONS
  To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.
authors.affiliation: Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College Chinese Academy of Medical Sciences, Beijing, PR China.
authors.forename: Wei
authors.initials: W
authors.lastname: Yang
authors.forename: Feng-qin
authors.initials: FQ
authors.lastname: Tan
authors.forename: Miao
authors.initials: M
authors.lastname: Sun
authors.forename: Xuan
authors.initials: X
authors.lastname: Zeng
authors.forename: Jie
authors.initials: J
authors.lastname: Liu
authors.forename: Guo-yang
authors.initials: GY
authors.lastname: Liu
authors.forename: Hui-yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: Xue
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000145:classification / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000145:classification / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D010375:Pedigree; D057050:Receptor Tyrosine Kinase-like Orphan Receptors; D011956:Receptors, Cell Surface / Q000235:genetics*; D017384:Sequence Deletion; D014034:Toes / Q000002:abnormalities
chemical_list: D011956:Receptors, Cell Surface; D004247:DNA; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors