We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A Case of Diabetes Mellitus Type MODY5 as a Feature of 17q12 Deletion Syndrome.
- Authors
Köstek, Hümeyra Yaşar; Çömlek, Fatma Özgüç; Gürkan, Hakan; Özkayın, Emine Neşe; Kökenli, Filiz Tütüncüler
- 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.
- Subjects
ENDOCRINOLOGY; CHILD psychopathology; MAGNESIUM; GLYCOSYLATED hemoglobin; COMPUTED tomography; MATURITY onset diabetes of the young; CHROMOSOME abnormalities; MAGNETIC resonance imaging; LIVER cells; GENE expression; PEDIATRICS; C-peptide; PANCREAS; TYPE 2 diabetes; POLYURIA; MICROARRAY technology; GENETIC mutation; KIDNEY diseases; HYPOMAGNESEMIA; POLYDIPSIA; GENETIC testing; CHILDREN
- Publication
Journal of Clinical Research in Pediatric Endocrinology, 2024, Vol 16, Issue 2, p205
- ISSN
1308-5727
- Publication type
Article
- DOI
10.4274/jcrpe.galenos.2022.2022-3-2