Literature DB >> 22511895

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

S Naik1, N S Thomas, J H Davies, M Lever, M Raponi, D Baralle, I K Temple, A Caliebe.   

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.

Entities:  

Year:  2012        PMID： 22511895      PMCID： PMC3326282          DOI： 10.1159/000335220

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  10 in total

1.  A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

Authors:  J Wirth; E Back; A Hüttenhofer; H G Nothwang; C Lich; S Gross; C Menzel; A Schinzel; P Kioschis; N Tommerup; H H Ropers; B Horsthemke; K Buiting
Journal:  Hum Mol Genet       Date:  2001-02-01       Impact factor: 6.150

2.  A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus.

Authors:  M Zeschnigk; C Lich; K Buiting; W Doerfler; B Horsthemke
Journal:  Eur J Hum Genet       Date:  1997 Mar-Apr       Impact factor: 4.246

3.  Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.

Authors:  Angela L Duker; Blake C Ballif; Erawati V Bawle; Richard E Person; Sangeetha Mahadevan; Sarah Alliman; Regina Thompson; Ryan Traylor; Bassem A Bejjani; Lisa G Shaffer; Jill A Rosenfeld; Allen N Lamb; Trilochan Sahoo
Journal:  Eur J Hum Genet       Date:  2010-06-30       Impact factor: 4.246

4.  Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome.

Authors:  T F Tsai; Y H Jiang; J Bressler; D Armstrong; A L Beaudet
Journal:  Hum Mol Genet       Date:  1999-08       Impact factor: 6.150

5.  Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient.

Authors:  Y Sun; R D Nicholls; M G Butler; S Saitoh; B E Hainline; C G Palmer
Journal:  Hum Mol Genet       Date:  1996-04       Impact factor: 6.150

6.  Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.

Authors:  Trilochan Sahoo; Daniela del Gaudio; Jennifer R German; Marwan Shinawi; Sarika U Peters; Richard E Person; Adolfo Garnica; Sau Wai Cheung; Arthur L Beaudet
Journal:  Nat Genet       Date:  2008-05-25       Impact factor: 38.330

7.  A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

Authors:  Deniz Kanber; Jacques Giltay; Dagmar Wieczorek; Corinna Zogel; Ron Hochstenbach; Almuth Caliebe; Alma Kuechler; Bernhard Horsthemke; Karin Buiting
Journal:  Eur J Hum Genet       Date:  2008-12-10       Impact factor: 4.246

8.  Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint.

Authors:  A Schulze; C Hansen; N E Skakkebaek; K Brøndum-Nielsen; D H Ledbeter; N Tommerup
Journal:  Nat Genet       Date:  1996-04       Impact factor: 38.330

9.  Prader-Willi syndrome is caused by disruption of the SNRPN gene.

Authors:  C D Kuslich; J A Kobori; G Mohapatra; C Gregorio-King; T A Donlon
Journal:  Am J Hum Genet       Date:  1999-01       Impact factor: 11.025

10.  A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.

Authors:  Adam J de Smith; Carolin Purmann; Robin G Walters; Richard J Ellis; Susan E Holder; Mieke M Van Haelst; Angela F Brady; Una L Fairbrother; Mehul Dattani; Julia M Keogh; Elana Henning; Giles S H Yeo; Stephen O'Rahilly; Philippe Froguel; I Sadaf Farooqi; Alexandra I F Blakemore
Journal:  Hum Mol Genet       Date:  2009-06-04       Impact factor: 6.150
  10 in total
  1 in total

1.  DB2: a probabilistic approach for accurate detection of tandem duplication breakpoints using paired-end reads.

Authors:  Gökhan Yavaş; Mehmet Koyutürk; Meetha P Gould; Sarah McMahon; Thomas LaFramboise
Journal:  BMC Genomics       Date:  2014-03-05       Impact factor: 3.969
  1 in total

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