Article
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
Journal of medical genetics - 1 Mar 2016
Daoud Hussein, Zhang Dong, McMurray Fiona, Yu Andrea, Luco Stephanie M, Vanstone Jason, Jarinova Olga, Carson Nancy, Wickens James, Shishodia Shifali, Choi Hwanho, McDonough Michael A, Schofield Christopher J, Harper Mary-Ellen, Dyment David A, Armour Christine M
Abstract excerpt
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 date, no other pathogenic mutation in FTO has been...
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