A synonymous variant in GCK gene as a cause of gestational diabetes mellitus
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...
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Endocrinology Research Centre
2019
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oai:doaj.org-article:c58381f813a24bdcbdf80becad08b55c2021-11-14T09:00:22ZA synonymous variant in GCK gene as a cause of gestational diabetes mellitus2072-03512072-037810.14341/DM9938https://doaj.org/article/c58381f813a24bdcbdf80becad08b55c2019-06-01T00:00:00Zhttps://www.dia-endojournals.ru/jour/article/view/9938https://doaj.org/toc/2072-0351https://doaj.org/toc/2072-0378The 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.Natalia A. ZubkovaPetr M. RubtsovFatima F. BurumkulovaLiudmila I. IbragimovaNina A. MakretskayaEvgeny V. VasilyevVasily M. PetrovAnatoly N. TiulpakovEndocrinology Research Centrearticlesynonymous variantglucokinasegestation diabetessplicingNutritional diseases. Deficiency diseasesRC620-627ENRUСахарный диабет, Vol 22, Iss 2, Pp 165-169 (2019) |
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EN RU |
| topic |
synonymous variant glucokinase gestation diabetes splicing Nutritional diseases. Deficiency diseases RC620-627 |
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synonymous variant glucokinase gestation diabetes splicing Nutritional diseases. Deficiency diseases RC620-627 Natalia A. Zubkova Petr M. Rubtsov Fatima F. Burumkulova Liudmila I. Ibragimova Nina A. Makretskaya Evgeny V. Vasilyev Vasily M. Petrov Anatoly N. Tiulpakov A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
| description |
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. |
| format |
article |
| author |
Natalia A. Zubkova Petr M. Rubtsov Fatima F. Burumkulova Liudmila I. Ibragimova Nina A. Makretskaya Evgeny V. Vasilyev Vasily M. Petrov Anatoly N. Tiulpakov |
| author_facet |
Natalia A. Zubkova Petr M. Rubtsov Fatima F. Burumkulova Liudmila I. Ibragimova Nina A. Makretskaya Evgeny V. Vasilyev Vasily M. Petrov Anatoly N. Tiulpakov |
| author_sort |
Natalia A. Zubkova |
| title |
A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
| title_short |
A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
| title_full |
A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
| title_fullStr |
A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
| title_full_unstemmed |
A synonymous variant in GCK gene as a cause of gestational diabetes mellitus |
| title_sort |
synonymous variant in gck gene as a cause of gestational diabetes mellitus |
| publisher |
Endocrinology Research Centre |
| publishDate |
2019 |
| url |
https://doaj.org/article/c58381f813a24bdcbdf80becad08b55c |
| work_keys_str_mv |
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