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1. A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome

Author

Hümeyra Yaşar Köstek, Fatma Özgüç Çömlek, Hakan Gürkan, Emine Neşe Özkayın, and Filiz Tütüncüler Kökenli

Subjects
mody5, 17q12 deletion, diabetes mellitus, hypomagnesemia, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Maturity onset diabetes of the young (MODY) is characterized by noninsulin-dependent diabetes diagnosed before the age of 25 years with an autosomal dominant inheritance. Rare mutations in the hepatocyte nuclear factor-1-beta (HNF1B) gene produce a syndrome that resembles MODY. About half of patients diagnosed with MODY type 5 due to HNF1B variants, carry a whole gene deletion, known as 17q12 deletion syndrome. 17q12 deletion syndrome is a rare chromosomal anomaly and is typified by deletion of more than 15 genes, including HNF1B resulting in kidney abnormalities and renal cysts, a diabetes syndrome and neurodevelopmental or neuropsychiatric disorders. A 12-year-old girl was referred after high blood sugar was detected in the hospital where she presented with polyuria and polydipsia, which had persisted for one month. Her serum magnesium (Mg) level was low at 1.5 mg/dL (normal value 1.6-2.6) and glycated hemoglobin was 14% (normal value 3.6-5.8) concurrent with a c-peptide of 1.54 ng/mL (normal value 0.8-4). MODY5 was suspected but the NGS gene panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEURODD1, PAX4, PDX1, RFX6, ZFP57, GLIS3, FOXP3, NEUROG3, G6PC2) did not identify any abnormality. During follow-up, her serum Mg remained low (1.2 mg/dL) together with elevated urinary Mg excretion at 172.5 mg/day. An HNF1B variant was again suspected in a patient with chronic hypomagnesemia with normal basal C peptide level. Abdominal computed tomography and magnetic resonance imaging revealed a 43 mm diameter, cystic lesion in the head of the pancreas, with agenesis of the pancreatic neck, trunk and tail. Genetic testing using a microarray analysis was subsequently performed and a heterozygous deletion at 17q12, including HNF1B, was detected. In case of clinical suspicion of HNF1B variants, further genetic examination using other techniques such as MLPA and CGH array may be required to detect the variant. This is because deletions and duplications may not be detected using next generation screening panel techniques.

Published
2024
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2. Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey

Author

Tulay Guran, Ilknur Arslanoglu, Ala Üstyol, Sukran Poyrazoglu, Derya Karaman Aksakal, Songül Karadeniz, Nurcan Cebeci, Olcay Evliyaoğlu, Halim Issever, Nihal Memioglu, Ahmet Uçar, Serap Semiz, Firdevs Bas, Didem Bezen, Feyza Darendeliler, Erdal Adal, Gül Yeşiltepe Mutlu, Hasan Önal, Saygin Abali, Abdurrahman Akgun, Serpil Bas, Nese Akcan, Sevil Sarikaya, Gulcan Seymen Karabulut, Ayla Güven, Ömer Tarım, Elif Sagsak, Melek Yildiz, Esra Deniz Papatya Cakir, Havva Nur Peltek, Bahar Ozcabi, Teoman Akcay, Aysegul Yuksel, Şükrü Hatun, Zeynep Atay, Hüseyin Anıl Korkmaz, Mehmet Azizoğlu, Oya Ercan, Pinar Isguven, Aydilek Dağdeviren, Abdullah Bereket, Filiz Tutunculer, Erdal Eren, Semih Bolu, Serap Turan, Tolga Özgen, Filiz Mine Çizmecioğlu, Emine Dilek, Yaşar Cesur, Heves Kırmızıbekmez, Metin Yildiz, Zehra Yavas Abali, Rüveyde Bundak, Cigdem Binay, Fatma Dursun, Acibadem University Dspace, YILDIZ, Mehmet, Tıp Fakültesi, Poyrazoglu, Sukran, Bundak, Ruveyde, Abali, Zehra Yavas, Onal, Hasan, Sarikaya, Sevil, Akgun, Abdurrahman, Bas, Serpil, Abali, Saygin, Bereket, Abdullah, Eren, Erdal, Tarim, Omer, Guven, Ayla, Yildiz, Metin, Aksakal, Derya Karaman, Yuksel, Aysegul, Karabulut, Gulcan Seymen, Hatun, Sukru, Ozgen, Tolga, Cesur, Yasar, Azizoglu, Mehmet, Dilek, Emine, Tutunculer, Filiz, Cakir, Esra Papatya, Ozcabi, Bahar, Evliyaoglu, Olcay, Karadeniz, Songul, Dursun, Fatma, Bolu, Semih, Arslanoglu, Ilknur, Mutlu, Gul Yesiltepe, Kirmizibekmez, Heves, Isguven, Pinar, Ustyol, Ala, Adal, Erdal, Ucar, Ahmet, Cebeci, Nurcan, Bezen, Didem, Binay, Cigdem, Semiz, Serap, Korkmaz, Huseyin Anil, Memioglu, Nihal, Sagsak, Elif, Peltek, Havva Nur, Yildiz, Melek, Akcay, Teoman, Turan, Serap, Guran, Tulay, Atay, Zeynep, Akcan, Nese, Cizmecioglu, Filiz, Ercan, Oya, Dagdeviren, Aydilek, Bas, Firdevs, Issever, Halim, Darendeliler, Feyza, Darendeliler, Feyza Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkey, Bundak, Ruveyde Univ Kyrenia, Dept Pediat Endocrinol, Fac Med, Kyrenia, North Cyprus, Turkey, Yildiz, Melek Kanuni Sultan Suleyman Training & Res Hosp, Clin Pediat Endocrinol & Metab Dis, Istanbul, Turkey, Atay, Zeynep Marmara Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Abali, Saygin Kartal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Tarim, Omer Uludag Univ, Dept Pediat Endocrinol, Fac Med, Bursa, Turkey, Guven, Ayla Amasya Univ, Dept Pediat Endocrinol, Fac Med, Amasya, Turkey, Akcan, Nese Goztepe Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cizmecioglu, Filiz Kocaeli Univ, Dept Pediat Endocrinol, Fac Med, Kocaeli, Turkey, Hatun, Sukru Koc Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Cesur, Yasar Bezmialem Vakif Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Tutunculer, Filiz Trakya Univ, Dept Pediat Endocrinol, Fac Med, Edirne, Turkey, Cakir, Esra Papatya Bakirkoy Dr Sadi Konuk Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cakir, Esra Papatya Sevket Yilmaz Training & Res Hosp, Clin Pediat Endocrinol, Bursa, Turkey, Dagdeviren, Aydilek Istanbul Univ, Dept Pediat Endocrinol, Cerrahpasa Fac Med, Istanbul, Turkey, Kirmizibekmez, Heves Zeynep Kamil Womens & Childrens Dis Training & Re, Clin Pediat Endocrinol, Istanbul, Turkey, Dursun, Fatma Umraniye Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Arslanoglu, Ilknur Duzce Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Isguven, Pinar Sakarya Univ, Dept Pediat Endocrinol, Fac Med, Sakarya, Turkey, Ustyol, Ala Haseki Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Atay, Zeynep Medipol Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey, Ucar, Ahmet Sisli Etfal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Cebeci, Nurcan Derince Training & Res Hosp, Clin Pediat Endocrinol, Kocaeli, Turkey, Bezen, Didem Okmeydani Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Binay, Cigdem Corlu State Hosp, Clin Pediat Endocrinol, Tekirdag, Turkey, Semiz, Serap Acibadem Univ, Clin Pediat Endocrinol, Fac Med, Istanbul, Turkey, Korkmaz, Huseyin Anil Balikesir Ataturk State Hosp, Clin Pediat Endocrinol, Balikesir, Turkey, Memioglu, Nihal Amer Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Sagsak, Elif Gaziosmanpasa Taksim Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Peltek, Havva Nur Edirne Sultan 1 Murat State Hosp, Clin Pediat Endocrinol, Edirne, Turkey, Akcay, Teoman Med Pk Gaziosmanpasa Hosp, Clin Pediat Endocrinol, Istanbul, Turkey, Akcan, Nese Univ Near East, Dept Pediat Endocrinol, Fac Med, Nicosia, North Cyprus, Turkey, Issever, Halim Istanbul Univ, Dept Publ Hlth, Istanbul Fac Med, Istanbul, Turkey, ABALI, SAYGIN -- 0000-0001-6552-2801, Turan, Serap -- 0000-0002-5172-5402, Hatun, Sukru -- 0000-0003-1633-9570, yesiltepe mutlu, gul -- 0000-0003-3919-7763, and [Poyrazoglu, Sukran -- Bundak, Ruveyde -- Abali, Zehra Yavas -- Bas, Firdevs -- Darendeliler, Feyza] Istanbul Univ, Dept Pediat Endocrinol, Istanbul Fac Med, Istanbul, Turkey -- [Bundak, Ruveyde] Univ Kyrenia, Dept Pediat Endocrinol, Fac Med, Kyrenia, North Cyprus, Turkey -- [Onal, Hasan -- Sarikaya, Sevil -- Akgun, Abdurrahman -- Yildiz, Melek] Kanuni Sultan Suleyman Training & Res Hosp, Clin Pediat Endocrinol & Metab Dis, Istanbul, Turkey -- [Bas, Serpil -- Abali, Saygin -- Bereket, Abdullah -- Turan, Serap -- Guran, Tulay -- Atay, Zeynep] Marmara Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Abali, Saygin] Kartal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Eren, Erdal -- Tarim, Omer] Uludag Univ, Dept Pediat Endocrinol, Fac Med, Bursa, Turkey -- [Guven, Ayla] Amasya Univ, Dept Pediat Endocrinol, Fac Med, Amasya, Turkey -- [Guven, Ayla -- Yildiz, Metin -- Aksakal, Derya Karaman -- Akcan, Nese] Goztepe Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Yuksel, Aysegul -- Karabulut, Gulcan Seymen -- Hatun, Sukru -- Mutlu, Gul Yesiltepe -- Cizmecioglu, Filiz] Kocaeli Univ, Dept Pediat Endocrinol, Fac Med, Kocaeli, Turkey -- [Hatun, Sukru] Koc Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Ozgen, Tolga -- Cesur, Yasar] Bezmialem Vakif Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Azizoglu, Mehmet -- Dilek, Emine -- Tutunculer, Filiz] Trakya Univ, Dept Pediat Endocrinol, Fac Med, Edirne, Turkey -- [Cakir, Esra Papatya] Bakirkoy Dr Sadi Konuk Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Cakir, Esra Papatya] Sevket Yilmaz Training & Res Hosp, Clin Pediat Endocrinol, Bursa, Turkey -- [Ozcabi, Bahar -- Evliyaoglu, Olcay -- Karadeniz, Songul -- Ercan, Oya -- Dagdeviren, Aydilek] Istanbul Univ, Dept Pediat Endocrinol, Cerrahpasa Fac Med, Istanbul, Turkey -- [Ozcabi, Bahar -- Mutlu, Gul Yesiltepe -- Kirmizibekmez, Heves] Zeynep Kamil Womens & Childrens Dis Training & Re, Clin Pediat Endocrinol, Istanbul, Turkey -- [Dursun, Fatma] Umraniye Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Bolu, Semih -- Arslanoglu, Ilknur] Duzce Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Isguven, Pinar] Sakarya Univ, Dept Pediat Endocrinol, Fac Med, Sakarya, Turkey -- [Ustyol, Ala] Haseki Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Adal, Erdal -- Atay, Zeynep] Medipol Univ, Dept Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Ucar, Ahmet] Sisli Etfal Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Cebeci, Nurcan] Derince Training & Res Hosp, Clin Pediat Endocrinol, Kocaeli, Turkey -- [Bezen, Didem] Okmeydani Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Binay, Cigdem] Corlu State Hosp, Clin Pediat Endocrinol, Tekirdag, Turkey -- [Semiz, Serap] Acibadem Univ, Clin Pediat Endocrinol, Fac Med, Istanbul, Turkey -- [Korkmaz, Huseyin Anil] Balikesir Ataturk State Hosp, Clin Pediat Endocrinol, Balikesir, Turkey -- [Memioglu, Nihal] Amer Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Sagsak, Elif] Gaziosmanpasa Taksim Training & Res Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Peltek, Havva Nur] Edirne Sultan 1 Murat State Hosp, Clin Pediat Endocrinol, Edirne, Turkey -- [Akcay, Teoman] Med Pk Gaziosmanpasa Hosp, Clin Pediat Endocrinol, Istanbul, Turkey -- [Akcan, Nese] Univ Near East, Dept Pediat Endocrinol, Fac Med, Nicosia, North Cyprus, Turkey -- [Issever, Halim] Istanbul Univ, Dept Publ Hlth, Istanbul Fac Med, Istanbul, Turkey

Subjects
Male, Turkey, Epidemiology, Endocrinology, Diabetes and Metabolism, Cohort Studies, MELLITUS, 0302 clinical medicine, Endocrinology, Rapidly Rising Incidence, Diagnosis, Prevalence, EPIDEMIOLOGY, Registries, 030212 general & internal medicine, Child, Geography, Incidence, Incidence (epidemiology), PREVALENCE, TIME, Seasonal-Variatin, Child, Preschool, Original Article, Female, Seasons, Male predominance, Cohort study, Adolescent, SEASONAL-VARIATION, Type 1 diabetes mellitus, 030209 endocrinology & metabolism, RAPIDLY RISING INCIDENCE, DIAGNOSIS, NATIONWIDE INCIDENCE, World health, Time, Nationwide Incidence, 03 medical and health sciences, Diabetes mellitus, POYRAZOĞLU Ş., BUNDAK R., Yavaş A., ÖNAL H., SARıKAYA S., AKGÜN A., BAŞ S., ABALı S., BEREKET A., EREN E., et al., -Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey-, Journal of clinical research in pediatric endocrinology, cilt.10, ss.336-342, 2018, medicine, Humans, childhood, Onset, Type 1 diabetes, Standard Population, business.industry, Mellitus, Infant, Newborn, Infant, Type 1 Diabetes Mellitus, medicine.disease, TRENDS, Childhood, Confidence interval, Diabetes Mellitus, Type 1, ONSET, Pediatrics, Perinatology and Child Health, incidence, Trends, business, Demography
Abstract

ABALI, SAYGIN/0000-0001-6552-2801; Turan, Serap/0000-0002-5172-5402; Hatun, Sukru/0000-0003-1633-9570; Akgun, Abdurrahman/0000-0002-2917-2469; yesiltepe mutlu, gul/0000-0003-3919-7763; Ozgen, Ilker Tolga/0000-0001-6592-9652 WOS: 000451667000006 PubMed: 29789274 Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively during 2013-2015. Total, as well as gender and age group specific (0-4, 5-9. 10-14 and 15-17 age) mean incidences per 100,000 per year were calculated. Results: There were 1,773 patients diagnosed during 2013-2015 (588 cases in 2013, 592 cases in 2014, 593 cases in 2015). Of these, 862 (48.6 %) were girls and 911 (51.4%)were boys. The mean age at diagnosis was 9.2 +/- 4.2 years and it was not significantly different between girls (9.0 +/- 4.1 years) and boys (9.4 +/- 4.4 years) (p = 0.052). The crude mean incidence was 8.99/100.000 confidence interval (CI) (95% CI: 8.58-9.42). Although mean incidence was similar between boys [8.98/100.000 (CI: 8.40 to 9.58)] and girls [9.01/100.000 (CI: 8.42 to 9.63)], there was male predominance in all groups except for 5-9 year age group. The standardized mean incidence was 9.02/100.000 according to the World Health Organization standard population. The mean incidence for the 0-4, 5-9, 10-14 and 15-17 age groups was 6.13, 11.68, 11.7 and 5.04/1 00.000 respectively. The incidence of T1DM was similar over the course of three years (p = 0.95). A significant increase in the proportion of cases diagnosed was observed in the autumn-winter seasons. Conclusion: The northwest region of Turkey experienced an intermediate incidence of T1DM over the period of the study.

Published
2018

3. Evaluation of Glucose Metabolism and Cardiovascular Risk Factors in Prepubertal Girls with Premature Pubarche

Author

Diğdem Bezen, Filiz Tütüncüler Kökenli, Emine Dilek, Didem Ağ Seleci, and Hakan Erbaş

Subjects
premature pubarche, prepubertal, leptin, glucose metabolism, adipocytokines, cardiovascular risk, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

INTRODUCTION: Premature pubarche (PP) is a risk factor for metabolic syndrome (MS). The aim was to evaluate if glucose-insulin metabolism, cardiovascular risk factors, familial cardiovascular risk factors (FCVRF) created a risk for insulin resistance (IR) and if PP was a risk factor alone for MS in normal weight prepubertal girls with PP. METHODS: Thirty-five prepubertal, non-obese girls with PP with normal birth weight and 35 age-matched control girls were evaluated for FCVRF, anthropometric measurements, blood pressure, lipid profile, fasting blood glucose-insulin, hemoglobin A1c (HbA1c), sex hormone binding globulin (SHBG), leptin, adiponectin, tumor necrosis factor-alpha (TNF-α), androgen levels, and bone age. Oral glucose tolerance test was performed in PP participants. Homeostasis model of assessment of IR (HOMA-IR), fasting glucose/insulin ratio, atherogenic index (AI), and free androgen index (FAI) were calculated. PP participants were further stratified by FCVRF. RESULTS: HbA1c, lipid profile, testosterone, leptin, adiponectin, TNF-α, HOMA-IR, glucose/insulin ratio, AI, and fasting glucose-insulin levels were similar. In the PP group FAI was significantly higher (p=0.001), whereas SHBG was significantly lower (p=0.010) than the control group. Leptin levels of FCVRF+ and FCVRF- subgroups were 15.2±9.1 and 9.7±7.2 ng/mL, respectively and the difference was significant (p=0.016). DISCUSSION AND CONCLUSION: As PP does not appear to be a risk factor alone for impaired glucose metabolism and IR in prepubertal non-obese girls with normal birth weight, it is our opinion that it is unnecessary to examine in detail such cases before puberty. Low SHBG levels in the PP group and high leptin levels in FCVRF+ subgroup might suggest that these may be predictive for MS in the future.

Published
2022
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4. Recommendations for Clinical Decision-making in Children with Type 1 Diabetes and Celiac Disease: Type 1 Diabetes and Celiac Disease Joint Working Group Report

Author

Şükrü Hatun, Buket Dalgıç, Damla Gökşen, Sema Aydogdu, Şenay Savaş Erdeve, Zarife Kuloğlu, Yaşar Doğan, Zehra Aycan, Gül Yeşiltepe Mutlu, Nuray Uslu Kızılkan, Alev Keser, Ömer Faruk Beşer, Mehmet Nuri Özbek, Aysun Bideci, Deniz Ertem, Olcay Evliyaoğlu, Beyza Eliuz Tipici, Tuğba Gökçe, Serra Muradoğlu, Orhun Çığ Taşkın, Tuğba Koca, Filiz Tütüncüler, Firdevs Baş, Feyza Darendeliler, and Mukadder Ayşe Selimoğlu

Subjects
children, type 1 diabetes, celiac disease, anti-tissue transglutaminase-iga, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

It is well-known that in children with type 1 diabetes (T1D), the frequency of Celiac disease (CD) is increased due to mechanisms which are not fully elucidated but include autoimmune injury as well as shared genetic predisposition. Although histopathologic examination is the gold standard for diagnosis, avoiding unnecessary endoscopy is crucial. Therefore, for both clinicians and patients' families, the diagnosis of CD remains challenging. In light of this, a joint working group, the Type 1 Diabetes and Celiac Disease Joint Working Group, was convened, with the aim of reporting institutional data and reviewing current international guidelines, in order to provide a framework for clinicians. Several controversial issues were discussed: For CD screening in children with T1D, regardless of age, it is recommended to measure tissue transglutaminase-immunoglobulin A (tTG-IgA) and/or endomysial-IgA antibody due to their high sensitivity and specificity. However, the decision-making process based on tTG-IgA titer in children with T1D is still debated, since tTG-IgA titers may fluctuate in children with T1D. Moreover, seronegativity may occur spontaneously. The authors' own data showed that most of the cases who have biopsy-proven CD had tTG-IgA levels 7-10 times above the upper limit. The decision for endoscopy based solely on tTG-IgA levels should be avoided, except in cases where tTG-IgA levels are seven times and above the upper limit. A closer collaboration should be built between divisions of pediatric endocrinology and gastroenterology in terms of screening, diagnosis and follow-up of children with T1D and suspicious CD.

Published
2022
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5. The Application of Next Generation Sequencing Maturity Onset Diabetes of the Young Gene Panel in Turkish Patients from Trakya Region

Author

Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, and Filiz Tütüncüler Kökenli

Subjects
monogenic diabetes, mody, ngs, pathogenic variant, novel variant, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characteristics of monogenic diabetes and MODY in the Trakya Region of Turkey.Methods:A panel of 20 monogenic diabetes related genes were screened in 61 cases. Illumina NextSeq550 system was used for sequencing. Pathogenicity of the variants were assessed by bioinformatics prediction software programs and segregation analyses.Results:In 29 (47.5%) cases, 31 pathogenic/likely pathogenic variants in the GCK, ABCC8, KCNJ11, HNF1A, HNF4A genes and in 11 (18%) cases, 14 variants of uncertain significance (VUS) in the GCK, RFX6, CEL, PDX1, KCNJ11, HNF1A, G6PC2, GLIS3 and KLF11 genes were identified. There were six different pathogenic/likely pathogenic variants and six different VUS which were novel.Conclusion:This is the first study including molecular studies of twenty monogenic diabetes genes in Turkish cases in the Trakya Region. The results showed that pathogenic variants in the GCK gene are the leading cause of MODY in our population. A high frequency of novel variants (32.4%-12/37) in the current study, suggests that multiple gene analysis provides accurate genetic diagnosis in MODY.

Published
2021
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