Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families

Renata Moldenhauer Minillo, Nara Sobreira, Maria De Fatima De Faria Soares, Julie Jurgens, Hua Ling, Kurt N. Hetrick, Kimberly F. Doheny, David Valle, Decio Brunoni, Ana B.Alvarez Perez

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)268-275
Number of pages8
JournalMolecular Syndromology
Volume5
Issue number6
DOIs
StatePublished - Dec 25 2014

Keywords

  • Autosomal recessive
  • Osteogenesis imperfecta type VI
  • SERPINF1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Minillo, R. M., Sobreira, N., De Fatima De Faria Soares, M., Jurgens, J., Ling, H., Hetrick, K. N., Doheny, K. F., Valle, D., Brunoni, D., & Perez, A. B. A. (2014). Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families. Molecular Syndromology, 5(6), 268-275. https://doi.org/10.1159/000369108