A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle.

Julien CorbeauCécile GrohsJeanlin JourdainMekki BoussahaFlorian BesnardAnne BarbatVincent PlassardJulie RivièreChristophe HamelinJeremy MortierDidier BoichardRaphaël GuatteoAurélien Capitan

Published in: Genetics, selection, evolution : GSE (2024)

In conclusion, we describe a large animal model for a recurrent substitution in COL1A1 that is responsible for type II OI in humans. More generally, this study highlights the utility of such datasets and large half-sib families available in livestock species to characterize sporadic genetic defects.

Keyphrases

late onset
intellectual disability
low birth weight
preterm birth
genome wide
gene expression
gestational age
preterm infants
dna methylation
autism spectrum disorder
single cell