Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

@article{Daoud2016IdentificationOA,
  title={Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.},
  author={Hussein Daoud and Dong Zhang and Fiona McMurray and Andrea C Yu and Stephanie M. Luco and Jason R Vanstone and Olga Jarinova and Nancy L. Carson and James R Wickens and Shifali Shishodia and Hwanho Choi and Michael A McDonough and Christopher J. Schofield and Mary-Ellen Harper and David A Dyment and Christine M. Armour},
  journal={Journal of medical genetics},
  year={2016},
  volume={53 3},
  pages={200-7}
}
BACKGROUND A homozygous loss-of-function mutation p.(Arg316Gln) in the fat mass and obesity-associated (FTO) gene, which encodes for an iron and 2-oxoglutarate-dependent oxygenase, was previously identified in a large family in which nine affected individuals present with a lethal syndrome characterised by growth retardation and multiple malformations. To… CONTINUE READING