A de novo missense mutation of COL1A1 causes Osteogenesis Imperfecta type 2 and premature delivery in Normande Cattle

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Grohs, Cécile | Corbeau, Julien | Jourdain, Jeanlin | Boussaha, Mekki | Plassard, Vincent | Barbat, Anne | Hamelin, Christophe | Mortier, Jérémy | Boichard, Didier | Guatteo, Raphaël | Capitan, Aurélien

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International audience. Seventeen male and female calves showing shortened gestation length and multiple fractures at birth were reported to the French National Observatory of Bovine Abnormalities (ONAB) among the descendants of a single Normande sire, suggesting autosomal inheritance with mosaicism. Clinical examination revealed clinical signs consistent with type II osteogenesis imperfecta (OI). Detailed analysis of gestation length and perinatal mortality supported a moderate proportion of affected calves (7.7%; 107 animals) and highlighted the underreporting of this congenital defect to the dedicated observatory. Genetic mapping, whole genome sequencing, and subsequent genotyping of cases and control animals identified a de novo missense substitution within the NC1 domain of COL1A1 (Chr19 g.36473965G>A; p.D1412N). The same mutation has been reported several times to cause type II OI in human. In conclusion, we report the fourth mutation of COL1A1 associated with type II OI in cattle and an interesting model for a syndrome also observed in human.

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