title: Maturity onset diabetes of youth (MODY) in Turkish children: sequence analysis of 11 causative genes by next generation sequencing.
abstract: BACKGROUND
  Maturity-onset diabetes of the youth (MODY), is a genetically and clinically heterogeneous group of diseasesand is often misdiagnosed as type 1 or type 2 diabetes. The aim of this study is to investigate both novel and proven mutations of 11 MODY genes in Turkish children by using targeted next generation sequencing.
  
  
  METHODS
  A panel of 11 MODY genes were screened in 43 children with MODY diagnosed by clinical criterias. Studies of index cases was done with MISEQ-ILLUMINA, and family screenings and confirmation studies of mutations was done by Sanger sequencing.
  
  
  RESULTS
  We identified 28 (65%) point mutations among 43 patients. Eighteen patients have GCK mutations, four have HNF1A, one has HNF4A, one has HNF1B, two have NEUROD1, one has PDX1 gene variations and one patient has both HNF1A and HNF4A heterozygote mutations.
  
  
  CONCLUSIONS
  This is the first study including molecular studies of 11 MODY genes in Turkish children. GCK is the most frequent type of MODY in our study population. Very high frequency of novel mutations (42%) in our study population, supports that in heterogenous disorders like MODY sequence analysis provides rapid, cost effective and accurate genetic diagnosis.
authors.forename: Sebahat Yılmaz
authors.initials: SY
authors.lastname: Ağladıoğlu
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.forename: Semra
authors.initials: S
authors.lastname: Çetinkaya
authors.forename: Veysel Nijat
authors.initials: VN
authors.lastname: Baş
authors.forename: Aşan
authors.initials: A
authors.lastname: Önder
authors.forename: Havva Nur
authors.initials: HN
authors.lastname: Peltek Kendirci
authors.forename: Haldun
authors.initials: H
authors.lastname: Doğan
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000032:analysis*; D002648:Child; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods; D000081410:Germinal Center Kinases; D051538:Hepatocyte Nuclear Factor 1-alpha; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011379:Prognosis; D017346:Protein Serine-Threonine Kinases; D014421:Turkey; D055815:Young Adult
chemical_list: D015415:Biomarkers; D000081410:Germinal Center Kinases; C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D017346:Protein Serine-Threonine Kinases