Clin Genet 2013: 83: 439 – 445 Printed in Singapore. All rights reserved  2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd CLINICAL GENETICS doi: 10.1111/j.1399-0004.2012.01939.x Short Report Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children Jahnavi S, Poovazhagi V, Mohan V, Bodhini D, Raghupathy P, Amutha A, Suresh Kumar P, Adhikari P, Shriraam M, Kaur T, Das AK, Molnes J, Njolstad PR, Unnikrishnan R, Radha V. Clinical and molecular characterization of neonatal diabetes and monogenic syndromic diabetes in Asian Indian children. Clin Genet 2013: 83: 439–445.  John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 Mutations in the pancreatic ATP sensitive K + channel proteins [sulfonyluea receptor 1 (SUR1) and inward rectifier K + channel Kir6.2 (Kir6.2), encoded by ATP-binding cassette transporter subfamily C member 8 (ABCC8 ) and potassium channel J11 (KCNJ11 ), respectively], are the most common cause of neonatal diabetes. We describe the clinical presentation and molecular characterization of Asian Indian children with neonatal diabetes mellitus and monogenic syndromes of diabetes. We sequenced KCNJ11, ABCC8 and insulin (INS ) genes in 33 unrelated Indian probands with onset of diabetes below one year of age. A total of 12 mutations were identified which included ABCC8 mutations in seven, KCNJ11 mutations in three and INS mutations in two children. The Asp212Tyr mutation in ABCC8 was novel. We also detected two novel mutations (Val67Met and Leu19Arg) in children with syndromic forms of diabetes like Berardinelli Seip syndrome [1-acyl-sn -glycerol-3-phosphate acyltransferase beta (AGPAT2 )] and Fanconi Bickel syndrome [solute carrier family 2A2 (SLC2A2 )]. Children carrying the KCNJ11 (Cys42Arg, Arg201Cys ) and ABCC8 (Val86Ala, Asp212Tyr) mutations have been successfully switched over from insulin therapy to oral sulfonylurea. Our study is the first large genetic screening study of neonatal diabetes in India. Conflict of interest The authors declare no conflict of interest. S Jahnavi a , V Poovazhagi b , V Mohan a,c , D Bodhini a , P Raghupathy d , A Amutha e , P Suresh Kumar f , P Adhikari g , M Shriraam h , T Kaur i , AK Das j , J Molnes k , PR Njolstad l ,R Unnikrishnan c and V Radha a a Department of Molecular Genetics, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India, b Department of Pediatrics, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India, c Department of Diabetology, Dr. Mohan’s Diabetes Specialities Centre, Chennai, Tamil Nadu, India, d Department of Pediatrics, Sagar Hospital, Bangalore, Karnataka, India, e Department of Epidemiology, Madras Diabetes Research Foundation, Chennai, Tamil Nadu, India, f Department of Medicine, Diabcare India Diabetes center, Kozhikodu, Kerala, India, g Department of Medicine, Kasturba Medical College, Mangalore, Karnataka, India, h Department of Medicine, Apollo Children’s Hospitals, Chennai, Tamil Nadu, India, i Department of NCD, Indian Council of Medical Research, New Delhi, Delhi, India, j Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Tamilnadu, India, k Department of Pediatrics, Haukeland University Hospital, Bergen, Hordaland, Norway, and l Department of Clinical Medicine, University of Bergen, Bergen, Norway Key words: ABCC8 – AGPAT2 – genetic syndromes of diabetes – infantile diabetes – INS genes – KCNJ11 – neonatal diabetes – PNDM – SLC2A2 Corresponding authors: Venkatesan Radha, PhD, Dr. Mohan’s Diabetes Specialties Centre and Madras Diabetes Research Foundation, 4, 439