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Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity

Nina De Rocker UGent, Sarah Vergult UGent, David Koolen, Eva Jacobs UGent, Alexander Hoischen, Susan Zeesman, Birgitte Bang, Frédérique Béna, Nele Bockaert, Ernie Bongers, et al. (2015) GENETICS IN MEDICINE. 17(6). p.460-466
abstract
Purpose: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis. Methods: In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. In addition, myt1l spatiotemporal expression in zebrafish embryos was analyzed by quantitative polymerase chain reaction and whole-mount in situ hybridization. Results: Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L. The familial cases comprise a 6-Mb deletion in a father and his three children and a 5′ MYT1L overlapping duplication in a father and his two children. Expression analysis in zebrafish embryos shows specific myt1l expression in the developing brain. Conclusion: Our data strongly strengthen the hypothesis that MYT1L is the causal gene for the observed syndromal intellectual disability. Moreover, because 17 patients present with obesity/overweight, haploinsufficiency of MYT1L might predispose to weight problems with childhood onset.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
intellectual disability, 2p25.3 microdeletion, obesity, 2p25.3 microduplication, MYT1L, COMPARATIVE GENOMIC HYBRIDIZATION, FINGER TRANSCRIPTION FACTORS, COPY NUMBER VARIANTS, NERVOUS-SYSTEM, ZINC-FINGER, DIRECT CONVERSION, WIDE ASSOCIATION, SCHIZOPHRENIA, NEURONS, GENES
journal title
GENETICS IN MEDICINE
Genet. Med.
volume
17
issue
6
pages
460 - 466
Web of Science type
Article
Web of Science id
000355564200005
JCR category
GENETICS & HEREDITY
JCR impact factor
7.71 (2015)
JCR rank
13/165 (2015)
JCR quartile
1 (2015)
ISSN
1098-3600
DOI
10.1038/gim.2014.124
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
5780644
handle
http://hdl.handle.net/1854/LU-5780644
date created
2014-12-11 13:31:22
date last changed
2016-12-19 15:47:08
@article{5780644,
  abstract     = {Purpose: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis.
Methods: In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. In addition, myt1l spatiotemporal expression in zebrafish embryos was analyzed by quantitative polymerase chain reaction and whole-mount in situ hybridization.
Results: Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L. The familial cases comprise a 6-Mb deletion in a father and his three children and a 5{\textquotesingle} MYT1L overlapping duplication in a father and his two children. Expression analysis in zebrafish embryos shows specific myt1l expression in the developing brain.
Conclusion: Our data strongly strengthen the hypothesis that MYT1L is the causal gene for the observed syndromal intellectual disability. Moreover, because 17 patients present with obesity/overweight, haploinsufficiency of MYT1L might predispose to weight problems with childhood onset.},
  author       = {De Rocker, Nina and Vergult, Sarah and Koolen, David and Jacobs, Eva and Hoischen, Alexander and Zeesman, Susan and Bang, Birgitte and B{\'e}na, Fr{\'e}d{\'e}rique and Bockaert, Nele and Bongers, Ernie and de Ravel, Thomy and Devriendt, Koenraad and Giglio, Sabrina and Faivre, Laurence and Joss, Shelagh and Maas, Saskia and Marle, Nathalie and Novara, Francesca and Nowaczyk, Malgorzata and Peeters, Hilde and Polstra, Abeltje and Roelens, Filip and Rosenberg, Carla and Thevenon, Julien and T{\"u}mer, Zeynep and Vanhauwaert, Suzanne and Varvagiannis, Konstantinos and Willaert, Andy and Willemsen, Marjolein and Willems, Marjolaine and Zuffardi, Orsetta and Coucke, Paul and Speleman, Franki and Eichler, Evan and Kleefstra, Tjitske and Menten, Bj{\"o}rn},
  issn         = {1098-3600},
  journal      = {GENETICS IN MEDICINE},
  keyword      = {intellectual disability,2p25.3 microdeletion,obesity,2p25.3 microduplication,MYT1L,COMPARATIVE GENOMIC HYBRIDIZATION,FINGER TRANSCRIPTION FACTORS,COPY NUMBER VARIANTS,NERVOUS-SYSTEM,ZINC-FINGER,DIRECT CONVERSION,WIDE ASSOCIATION,SCHIZOPHRENIA,NEURONS,GENES},
  language     = {eng},
  number       = {6},
  pages        = {460--466},
  title        = {Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity},
  url          = {http://dx.doi.org/10.1038/gim.2014.124},
  volume       = {17},
  year         = {2015},
}

Chicago
De Rocker, Nina, Sarah Vergult, David Koolen, Eva Jacobs, Alexander Hoischen, Susan Zeesman, Birgitte Bang, et al. 2015. “Refinement of the Critical 2p25.3 Deletion Region: The Role of MYT1L in Intellectual Disability and Obesity.” Genetics in Medicine 17 (6): 460–466.
APA
De Rocker, N., Vergult, S., Koolen, D., Jacobs, E., Hoischen, A., Zeesman, S., Bang, B., et al. (2015). Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. GENETICS IN MEDICINE, 17(6), 460–466.
Vancouver
1.
De Rocker N, Vergult S, Koolen D, Jacobs E, Hoischen A, Zeesman S, et al. Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity. GENETICS IN MEDICINE. 2015;17(6):460–6.
MLA
De Rocker, Nina, Sarah Vergult, David Koolen, et al. “Refinement of the Critical 2p25.3 Deletion Region: The Role of MYT1L in Intellectual Disability and Obesity.” GENETICS IN MEDICINE 17.6 (2015): 460–466. Print.