title: Screening for mutations in BMP4 and FOXC1 genes in congenital anomalies of the kidney and urinary tract in humans.
abstract: Recent studies have demonstrated in mice that bone morphogenetic protein 4 (BMP4) and forkhead transcription factor 1 (FOXC1) are involved in the organogenesis of the kidney and urinary tract and that derangement of either gene, BMP4 or FOXC1, leads to development of congenital anomalies of the kidney and urinary tract (CAKUT). In order to determine whether human CAKUT is associated with abnormalities in BMP4 or FOXC1, we established a PCR-based methodology for the DNA sequence analysis of BMP4 and FOXC1 in humans. Our initial screening identified an insertion mutation in FOXC1 with a triplet GGC in three of the seven patients with CAKUT. In the present study, no mutation was detected in the coding sequence of BMP4.
authors.affiliation: Department of Pediatrics, Tokai University School of Medicine, Isehara, Kanagawa, Japan. 0ammd007@is.icc.u-tokai.ac.jp
authors.forename: Takako
authors.initials: T
authors.lastname: Nakano
authors.forename: Fumio
authors.initials: F
authors.lastname: Niimura
authors.forename: Katharina
authors.initials: K
authors.lastname: Hohenfellner
authors.forename: Eiji
authors.initials: E
authors.lastname: Miyakita
authors.forename: Iekuni
authors.initials: I
authors.lastname: Ichikawa
mesh_terms: D000818:Animals; D001483:Base Sequence; D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D051858:Forkhead Transcription Factors; D005820:Genetic Testing; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D009154:Mutation; D011247:Pregnancy; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*; D014551:Urinary Tract / Q000002:abnormalities*
chemical_list: C525809:BMP4 protein, human; C525810:Bmp4 protein, mouse; D055415:Bone Morphogenetic Protein 4; D019485:Bone Morphogenetic Proteins; D004268:DNA-Binding Proteins; C112743:FOXC1 protein, human; D051858:Forkhead Transcription Factors; D014157:Transcription Factors