A missense mutation in PPP1R15B causes a syndrome including diabetes, short stature and microcephaly

Baroj Abdulkarim, Marc Nicolino, Mariana Igoillo Esteve, Mathilde Daures, Sophie Romero, Anne Philippi, Valérie Senée, Miguel Lopes, Daniel A Cunha, Heather Harding, Céline Derbois, Nathalie Bendelac, Andrew T Hattersley, Décio L Eizirik, David Ron, Miriam Cnop & Cécile Julier
Dysregulated endoplasmic reticulum stress and phosphorylation of eukaryotic translation initiation factor 2α (eIF2α) are associated with pancreatic β-cell failure and diabetes. Here we report the first homozygous mutation in the PPP1R15B gene (also known as constitutive repressor of eIF2α phosphorylation, CReP), encoding the regulatory subunit of an eIF2α specific phosphatase, in two siblings affected by a novel syndrome of diabetes of youth, with short stature, intellectual disability and microcephaly. The R658C mutation in PPP1R15B affects...
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