ArticleMolecular syndromology2014
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Article in Molecular syndromology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Molecular and Clinical Aspects of Osteogenesis Imperfecta Type VI: A Case Series with NovelInternational journal of molecular sciences · 2025Article
- Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.European journal of human genetics : EJHG · 2024Article
- Article
- The molecular landscape of osteogenesis imperfecta in a Brazilian tertiary service cohort.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2020Article
- Article
- Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.Molecular genetics & genomic medicine · 2018Article
- Pigment epithelium-derived factor restoration increases bone mass and improves bone plasticity in a model of osteogenesis imperfecta type VI via Wnt3a blockade.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- Mutations and altered expression of SERPINF1 in patients with familial otosclerosis.Human molecular genetics · 2016Article
- New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene.Human mutation · 2015Article
- Osteogenesis imperfecta in Brazilian patients.Genetics and molecular biologyArticle
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
Abstract
Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed.
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