hrp0092p1-322 | Diabetes and Insulin (2) | ESPE2019

Neonatal Diabetes and Glis3 Mutation: A New Phenotype

Kamoun Thouraya , Chabchoub Imen , Kmiha Sana , Julier Cecile , Hachicha Mongia

Background: The transcription factor Gli-similar 3 (Glis3) is predominantly expressed in the pancreas and it has a critical role in the development of insulin producing β-cells, thyroid and kidney. Mutations in GLIS3 is a rare cause of neonatal diabetes associated with congenital hypothyroidism, congenital glaucoma and polycystic kidney. We report a new case from consanguineous parents with homozygous novel mutation in GLIS3 gene.<p class="abstext"...

hrp0082p2-d3-351 | Diabetes (2) | ESPE2014

Wolcott-Rallison Syndrome: New Mutations and Report of Two Cases

Eren Erdal , Cakir Esra Deniz Papatya , Bozdemir Sefika Elmas , Celebi Solmaz , Julier Cecile , Saglam Halil , Tarim Omer

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...