Marked intrafamilial variability of exocrine and endocrine pancreatic phenotypes due to a splice site mutation in GATA6
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Authors
Savova, R.
De Franco, E.
Shaw-Smith, Charles
Georgieva, R.
Konstantinova, M.
Archinkova, M.
Panteleeva, E.
Kaneva, A.
Marinov, R.
Ellard, Sian
Journal
Biotechnology & Biotechnological Equipment
Type
Journal Article
Publisher
Taylor & Francis
Rights
Archived 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.
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
Note
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