A de novo missense mutation of COL1A1 causes Osteogenesis Imperfecta type 2 and premature delivery in Normande Cattle - INRAE - Institut national de recherche pour l’agriculture, l’alimentation et l’environnement Access content directly
Conference Papers Year : 2022

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

Abstract

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.

Domains

Animal genetics
Fichier principal
Vignette du fichier
Grohs_Wcgalp_11_013.pdf (357 Ko) Télécharger le fichier
Origin : Files produced by the author(s)

Dates and versions

hal-03731343 , version 1 (20-07-2022)

Identifiers

Cite

C Grohs, J Corbeau, J Jourdain, M Boussaha, V Plassard, et al.. A de novo missense mutation of COL1A1 causes Osteogenesis Imperfecta type 2 and premature delivery in Normande Cattle. 12th World Congress on Genetics Applied to Livestock Production, Jul 2022, Rotterdam, Netherlands. ⟨10.15454/BRKOV3⟩. ⟨hal-03731343⟩
77 View
15 Download

Altmetric

Share

Gmail Facebook X LinkedIn More