Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation
| Autor: | Nicholas Ng, Conor Woods, Kevin Colclough, Begona Sanchez-Lechuga, Muhammad Saqlain, Maria M. Byrne |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proband Glycosuria Adult Heart Defects Congenital Pediatrics medicine.medical_specialty lcsh:Internal medicine endocrine system lcsh:QH426-470 Tail of pancreas Case Report Type 2 diabetes Late Onset Disorders 03 medical and health sciences Young Adult Neonatal diabetes mellitus GATA6 Diabetes mellitus GATA6 Transcription Factor Genetics medicine Humans Abnormalities Multiple Family history lcsh:RC31-1245 Pancreas Genetics (clinical) 030102 biochemistry & molecular biology business.industry Diabetes Infant Newborn Infant Pancreatic agenesis medicine.disease Adult-onset Pedigree Treatment lcsh:Genetics 030104 developmental biology medicine.anatomical_structure Diabetes Mellitus Type 2 Partial pancreatic agenesis Mutation Female medicine.symptom business |
| Zdroj: | BMC Medical Genetics BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020) |
| ISSN: | 1471-2350 |
| Popis: | Background Mutations in GATA6 are the most frequent cause of pancreatic agenesis. Most cases present with neonatal diabetes mellitus. Case presentation The case was a female born after an uncomplicated pregnancy and delivery in a non-consanguineous family (3.59 kg, 70th percentile). Severe cardiac malformations were diagnosed at two and a half months old. No hyperglycaemic episodes were recorded in the neonatal period. Diabetes was diagnosed at 21 years due to the detection of incidental glycosuria. She had a low but detectable C-peptide level at diagnosis. Anti-GAD and Islet-cell antibodies were negative and she failed oral hypoglycaemic therapy and was started on insulin. Abdominal MRI revealed the absence of most of the neck, body, and tail of pancreas with normal pancreas elastase levels. Criteria for type 1 or type 2 diabetes were not fulfilled, therefore a next generation sequencing (NGS) panel was performed. A novel heterozygous pathogenic GATA6 mutation (p.Tyr235Ter) was identified. The GATA6 variant was not detected in her parents, implying that the mutation had arisen de novo in the proband. Conclusion Rarely GATA6 mutations can cause adult onset diabetes. This report highlights the importance of screening the GATA6 gene in patients with adult-onset diabetes, congenital cardiac defects and pancreatic agenesis with no first-degree family history of diabetes. It also emphasizes the importance of genetic counselling in these patients as future offspring will be at risk of inheriting the variant and developing GATA6 anomalies. |
| Databáze: | OpenAIRE |
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