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Karger Publishers, Molecular Syndromology, 2(2), p. 76-80, 2011

DOI: 10.1159/000335220

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Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain

Journal article published in 2012 by S. Naik, N. S. Thomas, J. H. Davies, M. Lever, M. Raponi, I. K. Temple, Diana Baralle ORCID, A. Caliebe
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

A deletion in 15q11.2 involving the <i>SNURF/SNRPN</i> 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 <i>SNURF/SNRPN</i> 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 <i>SNURF</i>.