CONTEXT Approximately 39% of cases with permanent neonatal diabetes (PNDM) and about 11% with maturity onset diabetes of the young (MODY) have an unknown genetic aetiology. Many of the known genes causing MODY and PNDM were identified as being critical for beta cell function before their identification as a cause of monogenic diabetes. OBJECTIVE We used nominations from the EU beta cell conso...

Neonatal diabetes mellitus (NDM) is a rare genetic condition with an incidence of 1 in 100,000 (1) that presents before 1 year of age (2). There are two main clinical forms of NDM: permanent NDM (PNDM), which requires lifelong treatment with insulin, and transient NDM (TNDM), which may spontaneously remit and sometimes recurs in the second to third decade of life. In most cases, TNDM and PNDM c...

Mutations in the pancreatic ATP-sensitive K(+) channel (K(ATP) channel) cause permanent neonatal diabetes mellitus (PNDM) in humans. All of the K(ATP) channel mutations examined result in decreased ATP inhibition, which in turn is predicted to suppress insulin secretion. Here we describe a patient with severe PNDM, which includes developmental delay and epilepsy, in addition to neonatal diabete...

H eterozygous activating mutations in the KCNJ11 gene are a common cause of permanent neonatal diabetes (PNDM) (1,2). In contrast to the autoimmune type 1 diabetes, patients with KCNJ11 mutations do not have serological markers of autoimmune -cell destruction at disease onset (1,3–5). In such patients, hyperglycemia does not result from insulin-secreting cell destruction but rather from impaire...

Permanent Neonatal Diabetes Mellitus (PNDM) is a rare disorder where patient presents with diabetes within the first few months of life without autoantibodies associated with type 1 diabetes. The majority of PNDM cases have INS, ABCC8 or KCNJ11 mutations. We present a PNDM case with INS mutation. The proband is a second child of three siblings without family history of diabetes. She was born at...

Technical Appendix Figure. Major structural features of plasmid pK351 indicated with bold type, compared with closely related blaNDM-1-positive plasmid pNDM-Ec1GN574 (KJ812998), pKOX_NDM1 KP826710.1). Light gray shades indicate shared regions with a high degree of homology. ORFs are portrayed by arrows and colored according to their putative functions. Dark-blue arrows indicate replication asso...

Permanent neonatal diabetes mellitus (PNDM) is a rare type of diabetes and KCNJ11 gene activating mutation is one of its prevalent causes. We introduced a 4-month-old male infant with poor feeding, restlessness, tachypnea, hyperglycemia, metabolic acidosis, and ketonemia. He was discharged with insulin and after 2 months, KCNJ11 gene mutation was found and treatment was switched from subcutaneo...

OBJECTIVES The objective of this study was to characterize the molecular mechanism of coproduction of KPC-2 and NDM-1 in Citrobacter freundii. METHODS C. freundii strain 112298 was isolated from a human case of septic shock in a Chinese teaching hospital. The major carbapenemase and ESBL genes were detected by PCR. The MIC values were determined by using VITEK 2 and antimicrobial susceptibili...

Abstract We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R (No Locus, GU170814; 2009) was identified in the kir6.2, the pore-forming subunit of the KATP ...