title: Mutation screening of BMP4 and Id2 genes in Chinese patients with congenital ureteropelvic junction obstruction.
abstract: Ureteropelvic junction obstruction (UPJO) is the most common congenital anomaly of the urinary tract. Evidence has shown that BMP4 and Id2 play crucial roles in nephrogenesis, alterations of which may cause ureteral developmental anomalies. Here, we directly sequenced the coding sequences in BMP4 and Id2 genes of 108 unrelated Chinese patients with ureteropelvic junction stenosis. One missense mutation c.485G> A (p.R162Q) in BMP4 and two synonymous mutations (c.1167T> C in BMP4 and c.108A> G in Id2) were detected in three cases. None of these variations were present in the 150 normal controls. Comparative amino acid sequence alignments of BMP4 in humans and other vertebrate orthologs show that p.R162 located to a highly conserved amino acid residue. Moreover, computational analysis predicted that R162Q probably infect the function of BMP4 protein.
  
  
  CONCLUSIONS
  The mutation c.485G> A in BMP4 might be one of the causes of human UPJO. Further functional studies are required to validate the association between this variation and UPJO. Otherwise, Id2 mutations do not seem to be involved in this disease.
authors.affiliation: Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.
authors.forename: Jun Li
authors.initials: JL
authors.lastname: He
authors.forename: Jun Hong
authors.initials: JH
authors.lastname: Liu
authors.forename: Feng
authors.initials: F
authors.lastname: Liu
authors.forename: Ping
authors.initials: P
authors.lastname: Tan
authors.forename: Tao
authors.initials: T
authors.lastname: Lin
authors.forename: Xu Liang
authors.initials: XL
authors.lastname: Li
mesh_terms: D055415:Bone Morphogenetic Protein 4 / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D003251:Constriction, Pathologic / Q000150:complications / Q000235:genetics; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital / Q000209:etiology*; D007223:Infant; D051797:Inhibitor of Differentiation Protein 2 / Q000235:genetics*; D020125:Mutation, Missense; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014513:Ureter / Q000002:abnormalities*; D014564:Urogenital Abnormalities / Q000150:complications / Q000235:genetics*
chemical_list: C525809:BMP4 protein, human; D055415:Bone Morphogenetic Protein 4; D005819:Genetic Markers; C497450:ID2 protein, human; D051797:Inhibitor of Differentiation Protein 2