A family with novel homozygous deletion mutation (c.1255delT; p.Phe419Serfs*12) in the glucokinase gene, which is a rare cause of permanent neonatal diabetes mellitus
| Autor: | Ilknur Arslanoglu, Semih Bolu, Furkan Timur, Recep Eröz, Mustafa Dogan, Hakan Uzun |
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| Přispěvatelé: | [Belirlenecek] |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Proband
medicine.medical_specialty GCK-MODY Glucokinase business.industry Birth weight [No Keywords] 030209 endocrinology & metabolism Permanent neonatal diabetes mellitus Impaired fasting glucose medicine.disease Compound heterozygosity Case Report / Olgu Sunumu glucokinase gene mutation Gestational diabetes 03 medical and health sciences 0302 clinical medicine Endocrinology permanent neonatal diabetes mellitus 030225 pediatrics Internal medicine Diabetes mellitus Pediatrics Perinatology and Child Health medicine business |
| Zdroj: | Turkish Archives of Pediatrics/Türk Pediatri Arşivi |
| ISSN: | 1308-6278 1306-0015 |
| Popis: | Heterozygous inactivating mutations in the glucokinase gene cause the mildest form of maturity-onset diabetes of the adolescents. However, homozygous or compound heterozygous mutations in the glucokinase gene are a rare cause of permanent neonatal diabetes mellitus. Herein, we present the case of a male child with permanent neonatal diabetes mellitus whose mutational analysis revealed a novel homozygous deletion mutation in the glucokinase gene. The male proband of Turkish ancestry from consanguineous parents was born at 37 weeks gestation with a birth weight of 1870 g ( |
| Databáze: | OpenAIRE |
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