title: Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.
abstract: BACKGROUND
  Lehmann et al., [2003, 2006] have documented two different substitutions at position 486 of the BMPR1B gene which resulted in a phenotype of brachydactyly A2 [MIM 112600] or brachydactyly C with symphalangism [MIM 113100].
  
  
  METHODS
  In this article we report a family of Polish extraction with a novel mutation: c.1457G>T (R486L) which segregated with a complex brachydactyly. Clinical and radiological data are presented and details of previously reported patients with a pathogenic change of an amino acid at position 486 of the BMPR1B gene are summarized.
  
  
  CONCLUSIONS
  Our data extends the previously known mutational and radiological spectrum associated with mutations in the BMPR1B gene and confirms the existence of a universal hotspot in the BMPR1B gene in this distinctive autosomal dominant brachydactyly disorder. It is of interest that an affected female in the Polish family had a severe congenital malformation of the venous system in addition to her digital anomalies. This observation raises the possibility of disturbance of embryonic angiogenesis by specific mutations in BMPR1B.
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.|Center for Medical Genetics GENESIS, Department of Research and Development, Poznań, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Badura-Stronka
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Mróz
authors.affiliation: Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, South Africa.
authors.forename: Peter
authors.initials: P
authors.lastname: Beighton
authors.affiliation: Department of Cardiology, Laboratory of Hemodynamics, Multidisciplinary Hospital, Nowa Sól, Poland.
authors.forename: Sebastian
authors.initials: S
authors.lastname: Łukawiecki
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Wicher
authors.affiliation: Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland.|Center for Medical Genetics GENESIS, Department of Research and Development, Poznań, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Latos-Bieleńska
authors.affiliation: Department of Medical Imaging, The Children's Hospital at Westmead, Sydney, Australia.
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kozłowski
mesh_terms: D001483:Base Sequence; D052005:Bone Morphogenetic Protein Receptors, Type I / Q000235:genetics*; D059327:Brachydactyly / Q000000981:diagnostic imaging* / Q000235:genetics*; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D011044:Poland; D016133:Polymerase Chain Reaction; D011859:Radiography; D017422:Sequence Analysis, DNA; D014680:Veins / Q000002:abnormalities*
chemical_list: D017931:DNA Primers; C498214:BMPR1B protein, human; D052005:Bone Morphogenetic Protein Receptors, Type I
keywords: BMPR1B; angiogenesis; brachydactyly A2; brachydactyly C