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  Clinical delineation of SETBP1 haploinsufficiency disorder

Jansen, N. A., Braden, R. O., Srivastava, S., Otness, E. F., Lesca, G., Rossi, M., et al. (2021). Clinical delineation of SETBP1 haploinsufficiency disorder. European Journal of Human Genetics, 29, 1198 -1205. doi:10.1038/s41431-021-00888-9.

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Jansen_etal_2021suppl_Clinical delineation of SETBP1 haploinsufficiency disorder.pdf.xlsx (Supplementary material), 40KB
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 Creators:
Jansen, Nadieh A.1, Author
Braden, Ruth O.2, Author
Srivastava, Siddharth3, Author
Otness, Erin F.4, Author
Lesca, Gaetan5, Author
Rossi, Massimiliano5, Author
Nizon, Mathilde6, Author
Bernier, Raphael A.7, Author
Quelin, Chloé8, Author
Van Haeringen, Arie9, Author
Kleefstra, Tjitske1, Author
Wong, Maggie M. K.10, Author           
Whalen, Sandra11, Author
Fisher, Simon E.10, 12, Author           
Morgan, Angela T.2, 13, Author
Van Bon, Bregje W.1, Author
Affiliations:
1Radboud University Medical Center, Nijmegen, The Netherlands, ou_persistent22              
2Murdoch Children’s Research Institute , Melbourne, Australia, ou_persistent22              
3Harvard Medical School, Boston, MA, USA, ou_persistent22              
4Texas Children’s Pediatrics Sugar Land, Sugar Land, TX, USA, ou_persistent22              
5Hospices Civils de Lyon, Lyon, France, ou_persistent22              
6CHU Nantes, Nantes, France, ou_persistent22              
7University of Washington, Seattle, WA, USA, ou_persistent22              
8CHU Hôpital Sud, Rennes, France, ou_persistent22              
9Leiden University Medical Centre, Leiden, The Netherlands, ou_persistent22              
10Language and Genetics Department, MPI for Psycholinguistics, Max Planck Society, ou_792549              
11Armand Trousseau Hospital, Paris, France, ou_persistent22              
12Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              
13University of Melbourne, Melbourne, Australia, ou_persistent22              

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 Abstract: SETBP1 haploinsufficiency disorder (MIM#616078) is caused by haploinsufficiency of SETBP1 on chromosome 18q12.3, but there has not yet been any systematic evaluation of the major features of this monogenic syndrome, assessing penetrance and expressivity. We describe the first comprehensive study to delineate the associated clinical phenotype, with findings from 34 individuals, including 24 novel cases, all of whom have a SETBP1 loss-of-function variant or single (coding) gene deletion, confirmed by molecular diagnostics. The most commonly reported clinical features included mild motor developmental delay, speech impairment, intellectual disability, hypotonia, vision impairment, attention/concentration deficits, and hyperactivity. Although there is a mild overlap in certain facial features, the disorder does not lead to a distinctive recognizable facial gestalt. As well as providing insight into the clinical spectrum of SETBP1 haploinsufficiency disorder, this reports puts forward care recommendations for patient management.

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Language(s): eng - English
 Dates: 2021-04-192021-08
 Publication Status: Issued
 Pages: -
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1038/s41431-021-00888-9
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Title: European Journal of Human Genetics
Source Genre: Journal
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Pages: - Volume / Issue: 29 Sequence Number: - Start / End Page: 1198 - 1205 Identifier: ISSN: 1018-4813
ISSN: 1476-5438