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

AuthorsValencia, María ; Caparrós-Martín, José A. ; García-Verdugo, J. M.; Temtamy, Samia; Aglan, Mona; Ruiz-Pérez, Victor L. ; Ostergaard, Elsebet
Issue Date2014
CitationAmerican Journal of Medical Genetics Part A 164(5): 1143-1150 (2014)
AbstractOsteogenesis 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.
Descriptionet al.
Identifiersdoi: 10.1002/ajmg.a.36427
issn: 1552-4825
e-issn: 1552-4833
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