PDX1 mutation in permanent neonatal diabetes A novel hypomorphic PDX1 mutation responsible for Permanent Neonatal Diabetes with subclinical exocrine deficiency Running title: PDX1 mutation in permanent neonatal diabetes
نویسندگان
چکیده
Marc Nicolino*, Kathryn C. Claiborn*, Valérie Senée , Anne Boland , Doris A. Stoffers , Cécile Julier 4,5 1 Hôpital Femme-Mère-Enfant, Division of Pediatric Endocrinology, Lyon University, Lyon, France 2 INSERM U870, CIC, Lyon, France. Department of Medicine, Division of Endocrinology, Diabetes, and Metabolism and the Institute for Diabetes, Obesity and Metabolism, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA Inserm UMR-S 958, Centre National de Génotypage, Evry, France University Paris 7 Denis-Diderot, Paris, France Centre National de Génotypage, Institut de Génomique, Commissariat à l’Energie Atomique, Evry, France
منابع مشابه
A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine Deficiency
OBJECTIVE Genes responsible for monogenic forms of diabetes have proven very valuable for understanding key mechanisms involved in beta-cell development and function. Genetic study of selected families is a powerful strategy to identify such genes. We studied a consanguineous family with two first cousins affected by neonatal diabetes; their four parents had a common ancestor, suggestive of a f...
متن کاملBiallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency
AIMS Recessive PDX1 (IPF1) mutations are a rare cause of pancreatic agenesis, with three cases reported worldwide. A recent report described two cousins with a homozygous hypomorphic PDX1 mutation causing permanent neonatal diabetes with subclinical exocrine insufficiency. The aim of our study was to investigate the possibility of hypomorphic PDX1 mutations in a large cohort of patients with pe...
متن کاملPDX1 Gene Mutation with Permanent Neonatal Diabetes Mellitus with Annular Pancreas, Duodenal Atresia, Hypoplastic Gall Bladder and Exocrine Pancreatic Insufficiency.
BACKGROUND Neonatal diabetes mellitus is a rare condition. CASE CHARACTERISTICS A small for gestational age male, presented with neonatal onset diabetes mellitus, duodenal atresia, annular pancreas and gall bladder hypoplasia. OBSERVATION Observation: A novel homozygous mutation p.K163R (c.488A>G) in the PDX1 gene was found. Parents were heterozygous for the same. MESSAGE This case highli...
متن کاملAgenesis of human pancreas due to decreased half-life of insulin promoter factor 1.
Neonatal diabetes mellitus can be transient or permanent. The severe form of permanent neonatal diabetes mellitus can be associated with pancreas agenesis. Normal pancreas development is controlled by a cascade of transcription factors, where insulin promoter factor 1 (IPF1) plays a crucial role. Here, we describe two novel mutations in the IPF1 gene leading to pancreas agenesis. Direct sequenc...
متن کاملGenetic Susceptibility to Transient and Permanent Neonatal Diabetes Mellitus
Neonatal diabetes mellitus (NDM) is a rare kind of diabetes characterized by hyperglycemia and low levels of insulin. Clinically, it is categorized into two main types: transient NDM (TNDM) and permanent NDM (PNDM). These types are diagnosed based on duration of insulin dependence early in the disease. In TNDM, diabetes begins in the first few weeks of life with remission in a few months. Howev...
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