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

Swati Naik | Zendy; N. Simon Thomas | Zendy; Justin H. Davies | Zendy; Margaret Lever | Zendy; Michela Raponi | Zendy; Diana Baralle | Zendy; I. Karen Temple | Zendy; Almuth Caliebe | Zendy

Open Access

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

Author(s) -

Swati Naik,

N. Simon Thomas,

Justin H. Davies,

Margaret Lever,

Michela Raponi,

Diana Baralle,

I. Karen Temple,

Almuth Caliebe

Publication year - 2011

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000335220

Subject(s) - gene duplication , tandem exon duplication , exon , genetics , gene , appetite , psychology , biology , medicine , endocrinology

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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