Article
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Diabetes - 1 Apr 2017
Dos Santos Reinaldo Sousa, Daures Mathilde, Philippi Anne, Romero Sophie, Marselli Lorella, Marchetti Piero, Senée Valérie, Bacq Delphine, Besse Céline, Baz Baz, Marroquí Laura, Ivanoff Sarah, Masliah-Planchon Julien, Nicolino Marc, Soulier Jean, Socié Gérard, Eizirik Decio L, Gautier Jean-François, Julier Cécile
Abstract excerpt
We describe a new syndrome characterized by early-onset diabetes associated with bone marrow failure, affecting mostly the erythrocytic lineage. Using whole-exome sequencing in a remotely consanguineous patient from a family with two affected siblings, we identified a single homozygous missense mutation (chr15.hg19:g.48,626,619A>G) located in the dUTPase (DUT) gene (National Center for Biotechnology Information...
Topics
- Adolescent
- Adult
- Aged
- Anemia, Aplastic
- Animals
- Apoptosis
- Blotting, Western
- Bone Marrow Diseases
- Bone Marrow Failure Disorders
- Child