58ESPE P1-032 Sanger sequencingwas performed tovalidate the likely Israeli populationsamples. Analysishouse :In KLF MODY analysisof the the using Next Methods was treated by insulin. diabeticsin adolescence the or youngpatient'sOnly adulthood. mother mother,two auntsone cousinand TheyDM. with were as diagnosed Maternal familyhistory revealed great years. patientat the age of Transient, stress hyperglycemia was thefirstclinical presentation our of Patients Background neonatal diabetes. mutationThis was previously reported tocause autosomalrecessive cousins.One unclewhocarries the mutationhas asymptomatic DM. membersthe patient'sin DM, and with healthy brother three and young affectingintron We Results forand finding segregation analysisthe family.in reduced penetrance mutationsin DM, in 6 by heterozygous a mutationthe in toprevention. diabetes. Monogenic diabetes( mellitus RFX NGS sequencing NGS sequencing • • NM_ Expanded panel of Expanded ABCC ) Skip of exonSkip of Highly likely to affect splicing Heterozygous RFX is essential fordevelopment the of theendocrinepancreas. 173560.3 11 identifieda heterozygous mutationin intestinalatresia hepatobiliaryand abnormalities. 6 generation forpanels(NGS)sequencing genes of monogenic DM, Spiegel R etSpiegelal, 8 , NEUROD, 1 6 Med Genet Med PediatricDiabetes Clinic, Institute of Diabetes,Metabolism, and Endocrinology Family History: - , APPL (RFX gene mutations Phenotype + Zuckerman 8 Inframe can cause neonatal ( Monogenic 15 ( 26 Geneticcan diagnosis personalize patientmanagement lead and Trusight 6 amino acids, acids, amino conserved) ):c. genes panel: 781 2011 2011 RFX 1 - deletion of 2 Am J , BLK, CEL, , BLK,CEL, We describe fourgenerations family,of DMinone proband _ Nehama Zuckerman Levin Diabetes and insulin 7 787 1 /exon - , PAX Sansbury delinsG 6 across - One platformwas(Illumina), utilized for genetic data relyinglocalon pipeline,and database of > were described as associated withMODYwith 23 . 3 Levin N 4 NGS years. Non FH, likely additional genesadditional search phenotypicand 8 intron 9 . , PDX ) in the ) in nucleotides nucleotides , EJHG GCK 7 2015 Mitchell 1 / , 1 , RFX exon DM) HNF , validation 4 proband Sanger , Paperna T Baris - seq. 8 Paperna autoimmuneDM was diagnosedat insertion of G, RFX 6 1 is an early is an FeldmanH A - Meuhedet Rileysyndrome) RFX , - 6 HNF T , T grandmother, grandmothera and gene. Mory Sanger Sanger thatco RFX Clinical 2018 1 in A, B - 6 , onset, 2 health services, services, health RFX report , Hershkovitz T HNF gene (c. 6 - segregated fivein family Intron a multigenerational 6 4 ( 7 7 A Regulatoryfactor X, non mutation asacause of Diabetes as well as childhood , INS,KCNJ Heterozygous - exon 781 pathogenic - 8 autoimmune - 2 4 _ The Ruth and Bruce Rappaport FacultyRappaport Bruce and of Medicine, The Ruth 787 Mutations 2 11 , caused delinsG 4 1500 , , Mory A Mory 13 Ben Franklin, Rambam 2 , Kurolap DOI: 10.3252/pso.eu.58ESPE.2019 1736 Health CareHealth Campus, ❖ ❖ Take ❖ ❖ ❖ ❖ ❖ Conclusions RFX ❖ ❖ ❖ ❖ Family pedigree Clinical of patientswith characteristics heterozygousRFX accurateidentifies and diagnosis subjects at risk. Genetic evaluationof youth non with Heterozygous RFX RFX chromosome A transcription factor that is encodedby the abnormalities due topancreatic hypoplasia,intestinal atresia and hepatobiliary Biallelic Developmentof theendocrinepancreas, islet celldifferentiation A Diagnosis of familyDiagnosis at risk can leadtoprevention ! unaffectedcarriers educationand thefamilies of Personalized treatment , accurate predictionof diabetes risk in the correctDiagnosing type of diabeteson: impact hasan may pave the way tocure Investigatingthe genetic etiology ofdiabetesis important and Accurate familyhistory provides clues todiagnosis Diabetesprevalence mellitus is increasing III II IV I 6 2 6 6 , 4 1 5 = Regulatory factor X. is also expressedin small intestineand colon regulates in mammals (mice andhuman): , home messages home Mahamid 2 mutations in T 1 1 1 DM 3 family RFX 2 6 4 RFX . - 6 2 5 3 ( NM_ The GeneticsThe institute, HET 6 2 ( WT heterozygous state) state) heterozygous 6 J 173560 1 mutationwas diagnosedasthecause of familialDM RFX Technion 3 WT 3 6 , HET Poster Poster Baris 7 HET 2 - 4 6 ): 3 c. MODY (Mitchell * WT 5 781 Mitchell J, 8 HET 6 presented - , Haifa, 2 4 _ Feldman H 7 787 HET 9 HET Diabetologia HET 8 delinsG 5 * Sansbury 6 HET - 9 10 Rileysyn.) cause neonatal diabetes WT 6 at: 11 Rambam 0 1 – FH, 2004 HET 11 autoimmuneprovidesDM EJHG HET , 12 * Smith SB, Smith RFX HET 12 2 2015 , WT 13 4 HET 13 , ShehadehN . * . 6 Health WT 14 Concepcion JP,Concepcion Nature genelocated on Mellitus 15 2 2010 Patel NatureKA Comm. 16 2 Care Campus, , * , Spiegel R,Spiegel Pediatr Diab Diab Am J Med GenetJ Am 1 2015 2015 , 4 2017 3 2011 ,