Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain
A deletion in 15q11.2 involving the SNURF/SNRPN gene is the typical finding in patients with Prader-Willi syndrome. Apart from translocations disrupting this gene, no other mutation types have been described so far. We report a patient in whom a small duplication in exon 1 of the SNURF/SNRPN gene was diagnosed which is predicted to interrupt only SNURF expression. The patient was investigated due to overgrowth, increased appetite and developmental delay in childhood. This duplication was inherited from her father who carries the duplication on his paternal chromosome 15 and also had transient excessive eating behaviour as an adolescent. RNA studies showed that the duplication introduces a premature stop codon in SNURF.
duplication in SNURF/SNRPN, loss of SNURF expression, Prader-Willi syndrome
76-80
Naik, S.
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Thomas, N. S.
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Davies, J. H.
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Lever, M.
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Raponi, M.
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Baralle, D.
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Temple, I. K.
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Caliebe, A.
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Naik, S.
af278542-177d-47f9-ae51-00babd03e877
Thomas, N. S.
fd7cd6ac-c48b-4095-8237-afe08c3ca375
Davies, J. H.
9f18fcad-f488-4c72-ac23-c154995443a9
Lever, M.
4e322ec3-7007-4b49-9ba1-6006e4167146
Raponi, M.
f465e77f-b9bf-4c32-80d6-43c0787542b9
Baralle, D.
faac16e5-7928-4801-9811-8b3a9ea4bb91
Temple, I. K.
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Caliebe, A.
3be129d1-68ed-425e-82c9-2ef8d36aaf14
Naik, S., Thomas, N. S., Davies, J. H., Lever, M., Raponi, M., Baralle, D., Temple, I. K. and Caliebe, A.
(2012)
Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.
Molecular Syndromology, 2, .
(doi:10.1159/000335220).
Abstract
A deletion in 15q11.2 involving the SNURF/SNRPN gene is the typical finding in patients with Prader-Willi syndrome. Apart from translocations disrupting this gene, no other mutation types have been described so far. We report a patient in whom a small duplication in exon 1 of the SNURF/SNRPN gene was diagnosed which is predicted to interrupt only SNURF expression. The patient was investigated due to overgrowth, increased appetite and developmental delay in childhood. This duplication was inherited from her father who carries the duplication on his paternal chromosome 15 and also had transient excessive eating behaviour as an adolescent. RNA studies showed that the duplication introduces a premature stop codon in SNURF.
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e-pub ahead of print date: 4 January 2012
Keywords:
duplication in SNURF/SNRPN, loss of SNURF expression, Prader-Willi syndrome
Organisations:
Human Development & Health
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Local EPrints ID: 207475
URI: http://eprints.soton.ac.uk/id/eprint/207475
ISSN: 1661-8769
PURE UUID: c1825dd4-4db1-4882-9143-e36d0e8e99df
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Date deposited: 12 Jan 2012 14:23
Last modified: 15 Mar 2024 03:30
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Author:
S. Naik
Author:
N. S. Thomas
Author:
M. Lever
Author:
M. Raponi
Author:
A. Caliebe
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