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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

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  4. Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults

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  • María Valencia
  • Jose A Caparrós-Martin
  • María Salomé Sirerol-Piquer
  • José Manuel García-Verdugo
  • Víctor Martínez-Glez
  • Pablo Lapunzina
  • Samia Temtamy
  • Mona Aglan
  • Allan M Lund
  • Peter G J Nikkels
  • Victor L Ruiz-Perez
  • Elsebet Ostergaard
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Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. Mutations in the gene encoding bone morphogenetic protein 1 (BMP1, also known as procollagen C-endopeptidase) have been associated with osteogenesis imperfecta in two sib pairs. In this report, we describe an additional patient with osteogenesis imperfecta with normal bone density and a recurrent, homozygous c.34G>C mutation in BMP1. Western blot analysis of dermal fibroblasts from this patient showed decreased protein levels of the two alternatively spliced products of BMP1 and abnormal cleavage of the C-terminal propeptide of type I procollagen. In addition, fluorescence and electron microscopy showed impaired assembly of type I collagen fibrils in the extracellular matrix of cultured fibroblasts derived from two patients: the patient described here and a previously reported patient with a homozygous BMP1 c.747C>G mutation. We conclude that BMP1 is essential for human type I collagen fibrilogenesis.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume164A
Issue number5
Pages (from-to)1143-50
Number of pages8
ISSN1552-4825
DOIs
Publication statusPublished - May 2014

ID: 45085084