Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of
- PDF / 543,555 Bytes
- 3 Pages / 612 x 792 pts (letter) Page_size
- 47 Downloads / 188 Views
Genotype-Phenotype Characteristics of Turkish Children With Glucokinase Mutations Associated Maturity-Onset Diabetes of the Young SEMIH BOLU1, RECEP EROZ2, MUSTAFA DOGAN2, ILKNUR ARSLANOGLU3 AND ISMAIL DUNDAR4 From Department of Pediatrics Endocrinology, 1Adiyaman Training and Research Hospital, Adiyaman, 3Duzce University Medical Faculty, Duzce; and 4Malatya Training and Research Hospital, Malatya; and 2Department of Medical Genetics, Duzce University Medical Faculty, Duzce; Turkey. Correspondence to: Dr Semih Bolu, Altýnþehir Neighborhood, Yeþil Park Batýþehir, C-Bloc No:35, 02040 Adiyaman, Turkey. [email protected] Submitted: May 08, 2019; Initial review: October 05, 2019; Accepted: March 14, 2020.
Objective: To investigate phenotype-genotype correlations in Turkish children with glucokinase gene mutations leading to Maturity-onset diabetes in young (GCK-MODY). Methods: Retrospective analysis of 40 patients (16 girls) aged under 18 with GCK-MODY. Results: Mean (SD) serum fasting blood glucose level was 6.79 (0.59) mmol/L and the mean (SD) HbA1c level at diagnosis was 6.3% (0.5). Sixteen different variations were detected in the GCK genes of the 40 cases; 33 missense mutations, 6 deletions, and one nonsense mutation. The birthweight of infants with deletion mutation was significantly lower than that of infants with other mutations [2460 (353.66) g vs 2944.11 (502.08) g]. Conclusion: GCKMODY patients with deletion mutation inherited from mothers had lower birthweight and higher fasting blood glucose than those with other inherited mutations but similar HbA1c values. Keywords: Gestational diabetes mellitus, Next generation sequencing. Published online: June 12, 2020; PII: S097475591600199
M
aturity-onset diabetes of the young (MODY) is a rare form of diabetes inherited in an autosomal dominant manner and developing secondary to beta cell dysfunction. MODY accounts for 1.1-4.2% of diabetic children and has a reported prevalence of 2.4-4.6 per 100,000 [1,2]. GCK-MODY (MODY2) and HNF1AMODY (MODY3) constitute 90% of all MODY cases [3,4]. Heterozygous, inactivating mutations in the glucokinase (GCK) gene cause GCK-MODY, while homozygous or combined heterozygous mutations lead to permanent neonatal diabetes mellitus [5]. GCK mutations are commonly encountered in countries such as Spain, France, and Italy, where blood glucose screening is routinely performed, it is also reported as the leading cause of MODY in the Turkish population [4]. The purpose of this study was to investigate the genotypephenotype correlations of patients with GCK-MODY followed-up in three different centers in Turkey. METHODS Data was retrieved from hospital records for 40 MODY patients with GCK mutations (16 girls) aged under 18 years, who had presented to the department of pediatric endocrinology between 2013 and 2018. All selected cases were variant carriers in the GCK gene. Parents with no history of diabetes mellitus were tested for fasting INDIAN PEDIATRICS
plasma glucose and glycosylated hemoglobin (HbA1c). GCK gene mutation analysis wa
Data Loading...
