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Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism

Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism
Hepatoblastoma is a tumour of early childhood occurring in association with genetic syndromes including Beckwith-Wiedemann Syndrome (BWS) which results from dominance of paternallyinherited genes on chromosome 11p15. We report a child without clinical BWS, neonatally diagnosed with focal congenital hyperinsulinism resulting from a paternally-inherited recessively-acting mutation of ABCC8 and pancreatic paternal uniparental disomy (UPD) for chromosome 11p15, who subsequently developed hepatoblastoma. Genetic testing showed UPD 11p15 in the pancreas and liver but not systemically, allowing the expression of mutated ABCC8 in both tissues. Infants with large or multifocal forms of focal congenital hyperinsulinism may be at risk of BWS-like tumours due to mosaic UPD despite negative whole-blood and buccal DNA testing and tumour surveillance should be considered for this minority.
congenital hyperinsulinaemic, hypoglycaemia, hepatoblastoma, beckwith-wiedemann syndrome, uniparental disomy, chromosome 11p
1769-7212
114-117
Calton, Elizabeth A.
c0252207-e7a5-499c-b4f7-c657e6ef71be
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Lever, Margaret
4d112693-a8b5-46d9-8759-29e3677f31d6
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Davies, Justin H.
9f18fcad-f488-4c72-ac23-c154995443a9
Hussain, Khalid
6a6ffd21-e2f9-42ac-8ada-67c890a91ca1
Gray, Juliet C.
12d5e17c-97bb-4d6d-8fc4-3914b730ed42
Calton, Elizabeth A.
c0252207-e7a5-499c-b4f7-c657e6ef71be
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Mackay, Deborah J.G.
588a653e-9785-4a00-be71-4e547850ee4a
Lever, Margaret
4d112693-a8b5-46d9-8759-29e3677f31d6
Ellard, Sian
6c9b0ede-8980-4602-b063-444b165baa09
Flanagan, Sarah E.
ad5fb709-7f4b-4063-9b9f-bdf9c1cf1d2b
Davies, Justin H.
9f18fcad-f488-4c72-ac23-c154995443a9
Hussain, Khalid
6a6ffd21-e2f9-42ac-8ada-67c890a91ca1
Gray, Juliet C.
12d5e17c-97bb-4d6d-8fc4-3914b730ed42

Calton, Elizabeth A., Temple, I. Karen, Mackay, Deborah J.G., Lever, Margaret, Ellard, Sian, Flanagan, Sarah E., Davies, Justin H., Hussain, Khalid and Gray, Juliet C. (2013) Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinism. European Journal of Medical Genetics, 56 (2), 114-117. (doi:10.1016/j.ejmg.2012.12.001). (PMID:23261959)

Record type: Article

Abstract

Hepatoblastoma is a tumour of early childhood occurring in association with genetic syndromes including Beckwith-Wiedemann Syndrome (BWS) which results from dominance of paternallyinherited genes on chromosome 11p15. We report a child without clinical BWS, neonatally diagnosed with focal congenital hyperinsulinism resulting from a paternally-inherited recessively-acting mutation of ABCC8 and pancreatic paternal uniparental disomy (UPD) for chromosome 11p15, who subsequently developed hepatoblastoma. Genetic testing showed UPD 11p15 in the pancreas and liver but not systemically, allowing the expression of mutated ABCC8 in both tissues. Infants with large or multifocal forms of focal congenital hyperinsulinism may be at risk of BWS-like tumours due to mosaic UPD despite negative whole-blood and buccal DNA testing and tumour surveillance should be considered for this minority.

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More information

e-pub ahead of print date: 20 December 2012
Published date: February 2013
Keywords: congenital hyperinsulinaemic, hypoglycaemia, hepatoblastoma, beckwith-wiedemann syndrome, uniparental disomy, chromosome 11p
Organisations: Cancer Sciences, Human Development & Health

Identifiers

Local EPrints ID: 346607
URI: https://eprints.soton.ac.uk/id/eprint/346607
ISSN: 1769-7212
PURE UUID: d6ed3c8a-c2c1-4fd0-9e57-cce021f68bd1
ORCID for Deborah J.G. Mackay: ORCID iD orcid.org/0000-0003-3088-4401

Catalogue record

Date deposited: 03 Jan 2013 11:47
Last modified: 06 Jun 2018 12:54

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