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A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis.

Chappell L, Gorman S, Campbell F, Ellard S, Rice G, Dobbie A, Crow YJ

Am J Med Genet A. 2008;146A( 13):1713-7.

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Abstract

We report a patient born to consanguineous parents as a further example of a recently described phenotype comprising neonatal diabetes, intestinal atresias and gall bladder agenesis. Other reports have described cases with overlapping patterns including malrotation, biliary atresia and pancreatic hypoplasia (e.g. as described by Martínez-Frías). We propose that these cases may represent variations of the same syndrome. It is likely that this disorder is inherited as an autosomal recessive trait. Our case is the first to have neonatal diabetes without a demonstrable structural pancreatic abnormality, showing that a deficit in pancreatic function is involved. We sequenced genes with a recognized role in monogenic forms of diabetes, including KCNJ11, ABCC8, GCK, IPF1, HNF1beta, NeuroD1 and TCF7L2, as well as a novel candidate gene, HNF6, known to be involved in hepatobiliary and pancreatic development, but did not identify mutations. (c) 2008 Wiley-Liss, Inc.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Publication form:
Published date:
Journal title:
ISSN:
Place of publication:
United States
Volume:
146A( 13)
Start page:
1713
End page:
7
Pagination:
1713-7
Digital Object Identifier:
10.1002/ajmg.a.32304
Access state:
Active

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University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:1d18551
Created:
30th August, 2009, 14:54:14
Last modified:
3rd March, 2010, 18:54:47

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