Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6

2.50
Hdl Handle:
http://hdl.handle.net/11287/620684
Title:
Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6
Authors:
Savova, R.; De Franco, E.; Shaw-Smith, Charles; Georgieva, R.; Konstantinova, M.; Archinkova, M.; Panteleeva, E.; Kaneva, A.; Marinov, R.; Ellard, Sian ( 0000-0002-7620-5526 ) ; Hattersley, Andrew T.
Abstract:
The objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with a GATA6 mutation. A girl, currently aged 12 years 3 months, was born with intrauterine growth retardation: weight 1600 g (–4.3 SDS) at term. After birth, foramen ovale and patent ductus arteriosus (PDA) were diagnosed by echocardiography. Diabetes was diagnosed on the 9th day after birth. Exocrine pancreatic insufficiency was clinically diagnosed at about 2 years of age and pancreatic agenesis was revealed later by magnetic resonance imaging. Her father had undergone surgery during infancy for PDA and had developed insulin dependent diabetes at 12 years of age. Ultrasound revealed a thin pancreas with normal length and anatomical structure. He has subclinical exocrine pancreatic insufficiency, low insulin needs and no late complications of diabetes up to the age of 40 years. Sequencing of GATA6 identified a heterozygous splicing mutation, 1136-2A>G, in the girl and her father. Testing of the paternal grandparents showed that the mutation was likely to have arisen de novo in the father. Identification of a GATA6 mutation explains the cardiac anomalies and diabetes in this family. This case highlights the marked intrafamilial variability of both exocrine and endocrine pancreatic phenotypes in patients with GATA6 mutations.
Citation:
Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6 2017, 32 (1):124 Biotechnology & Biotechnological Equipment
Publisher:
Taylor & Francis
Journal:
Biotechnology & Biotechnological Equipment
Issue Date:
8-May-2018
URI:
http://hdl.handle.net/11287/620684
DOI:
10.1080/13102818.2017.1400402
Additional Links:
https://www.tandfonline.com/doi/full/10.1080/13102818.2017.1400402
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
1310-2818; 1314-3530
Appears in Collections:
Diabetes/Endocrine Services; Clinical Genetics (Peninsula Genetics); Molecular Genetics; 2018 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSavova, R.en
dc.contributor.authorDe Franco, E.en
dc.contributor.authorShaw-Smith, Charlesen
dc.contributor.authorGeorgieva, R.en
dc.contributor.authorKonstantinova, M.en
dc.contributor.authorArchinkova, M.en
dc.contributor.authorPanteleeva, E.en
dc.contributor.authorKaneva, A.en
dc.contributor.authorMarinov, R.en
dc.contributor.authorEllard, Sianen
dc.contributor.authorHattersley, Andrew T.en
dc.date.accessioned2018-05-08T09:00:10Z-
dc.date.available2018-05-08T09:00:10Z-
dc.date.issued2018-05-08-
dc.identifier.citationMarked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6 2017, 32 (1):124 Biotechnology & Biotechnological Equipmenten
dc.identifier.issn1310-2818-
dc.identifier.issn1314-3530-
dc.identifier.doi10.1080/13102818.2017.1400402-
dc.identifier.urihttp://hdl.handle.net/11287/620684-
dc.description.abstractThe objective of this study was to describe the clinical characteristics of syndromic neonatal diabetes in a family with a GATA6 mutation. A girl, currently aged 12 years 3 months, was born with intrauterine growth retardation: weight 1600 g (–4.3 SDS) at term. After birth, foramen ovale and patent ductus arteriosus (PDA) were diagnosed by echocardiography. Diabetes was diagnosed on the 9th day after birth. Exocrine pancreatic insufficiency was clinically diagnosed at about 2 years of age and pancreatic agenesis was revealed later by magnetic resonance imaging. Her father had undergone surgery during infancy for PDA and had developed insulin dependent diabetes at 12 years of age. Ultrasound revealed a thin pancreas with normal length and anatomical structure. He has subclinical exocrine pancreatic insufficiency, low insulin needs and no late complications of diabetes up to the age of 40 years. Sequencing of GATA6 identified a heterozygous splicing mutation, 1136-2A>G, in the girl and her father. Testing of the paternal grandparents showed that the mutation was likely to have arisen de novo in the father. Identification of a GATA6 mutation explains the cardiac anomalies and diabetes in this family. This case highlights the marked intrafamilial variability of both exocrine and endocrine pancreatic phenotypes in patients with GATA6 mutations.en
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urlhttps://www.tandfonline.com/doi/full/10.1080/13102818.2017.1400402en
dc.rightsArchived with thanks to Biotechnology & Biotechnological Equipment. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.subjectWessex Classification Subject Headings::Endocrinology::Diabetesen
dc.titleMarked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6en
dc.typeJournal Articleen
dc.identifier.journalBiotechnology & Biotechnological Equipmenten
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden
dc.contributor.institutionClinic of Endocrinology and Diabetes, University Pediatric Hospital, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK-
dc.contributor.institutionInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK-
dc.contributor.institutionClinic of Endocrinology and Diabetes, University Pediatric Hospital, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionClinic of Endocrinology and Diabetes, University Pediatric Hospital, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionClinic of Endocrinology and Diabetes, University Pediatric Hospital, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionClinic of Endocrinology and Diabetes, University Pediatric Hospital, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionClinic of Cardiology, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionClinic of Cardiology, Medical University of Sofia, Sofia, Bulgaria-
dc.contributor.institutionInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK-
dc.contributor.institutionInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK-
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