دورية أكاديمية
A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
| العنوان: | A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
|---|---|
| المؤلفون: | Natalia A. Zubkova, Petr M. Rubtsov, Fatima F. Burumkulova, Liudmila I. Ibragimova, Nina A. Makretskaya, Evgeny V. Vasilyev, Vasily M. Petrov, Anatoly N. Tiulpakov |
| المصدر: | Сахарный диабет, Vol 22, Iss 2, Pp 165-169 (2019) |
| بيانات النشر: | Endocrinology Research Centre, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Nutritional diseases. Deficiency diseases |
| مصطلحات موضوعية: | synonymous variant, glucokinase, gestation diabetes, splicing, Nutritional diseases. Deficiency diseases, RC620-627 |
| الوصف: | The diagnosis of MODY as a subtype of gestational diabetes mellitus (GDM) is important for an adequate management during pregnancy and the postnatal period. The present report describes a case of GDM caused by a synonymous с.666C>G р.V222V substitution in the GCK gene. The variant, which was initially ranked as ‘likely benign’, was later proven to be pathogenic by in vitro studies. The с.666C>G substitution led to the use of a new donor splice site and synthesis of the aberrant mRNA with deletion of 16 base pairs. The case illustrates that additional clinical and experimental data may be required for the correct interpretation of sequence variants pathogenicity. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English Russian |
| تدمد: | 2072-0351 2072-0378 |
| Relation: | https://www.dia-endojournals.ru/jour/article/view/9938; https://doaj.org/toc/2072-0351; https://doaj.org/toc/2072-0378 |
| DOI: | 10.14341/DM9938 |
| URL الوصول: | https://doaj.org/article/c58381f813a24bdcbdf80becad08b55c |
| رقم الأكسشن: | edsdoj.58381f813a24bdcbdf80becad08b55c |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20720351 20720378 |
|---|---|
| DOI: | 10.14341/DM9938 |