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Article

Osteogenesis Imperfecta Type VI in Individuals from Northern Canada.

Calcified tissue international - 1 Jun 2016

Ward Leanne, Bardai Ghalib, Moffatt Pierre, Al-Jallad Hadil, Trejo Pamela, Glorieux Francis H, Rauch Frank

Abstract excerpt

Osteogenesis imperfecta (OI) type VI is a recessively inherited form of OI that is caused by mutations in SERPINF1, the gene coding for pigment-epithelium derived factor (PEDF). Here, we report on two apparently unrelated children with OI type VI who had the same unusual homozygous variant in intron 6 of SERPINF1 (c.787-10C>G). This variant created a novel splice site that led to the in-frame addition of three...

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Identifiers

PMID: 26815784
DOI: 10.1007/s00223-016-0110-1

Genes

SERPINF1

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