Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study.
16p13.11 microduplication syndrome
copy number variation
digital health
genetics
human phenotype ontology
incomplete penetrance
online survey
phenotype
self-phenotyping
variable presentation
Journal
Journal of medical Internet research
ISSN: 1438-8871
Titre abrégé: J Med Internet Res
Pays: Canada
ID NLM: 100959882
Informations de publication
Date de publication:
16 03 2021
16 03 2021
Historique:
received:
13
10
2020
accepted:
16
01
2021
revised:
26
12
2020
entrez:
16
3
2021
pubmed:
17
3
2021
medline:
30
9
2021
Statut:
epublish
Résumé
16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use a patient "self-phenotyping" survey to collect data directly from patients to further characterize the phenotypes of 16p13.11 microduplication syndrome. This study aimed to (1) discover self-identified phenotypes in 16p13.11 microduplication syndrome that have been underrepresented in the scientific literature and (2) demonstrate that self-phenotyping tools are valuable sources of data for the medical and scientific communities. As part of a large study to compare and evaluate patient self-phenotyping surveys, an online survey tool, Phenotypr, was developed for patients with rare disorders to self-report phenotypes. Participants with 16p13.11 microduplication syndrome were recruited through the Boston Children's Hospital 16p13.11 Registry. Either the caregiver, parent, or legal guardian of an affected child or the affected person (if aged 18 years or above) completed the survey. Results were securely transferred to a Research Electronic Data Capture database and aggregated for analysis. A total of 19 participants enrolled in the study. Notably, among the 19 participants, aggression and anxiety were mentioned by 3 (16%) and 4 (21%) participants, respectively, which is an increase over the numbers in previously published literature. Additionally, among the 19 participants, 3 (16%) had asthma and 2 (11%) had other immunological disorders, both of which have not been previously described in the syndrome. Several phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes.
Sections du résumé
BACKGROUND
16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variation at chromosome 16p13.11. Given its variability, there may be features that have not yet been reported. The goal of this study was to use a patient "self-phenotyping" survey to collect data directly from patients to further characterize the phenotypes of 16p13.11 microduplication syndrome.
OBJECTIVE
This study aimed to (1) discover self-identified phenotypes in 16p13.11 microduplication syndrome that have been underrepresented in the scientific literature and (2) demonstrate that self-phenotyping tools are valuable sources of data for the medical and scientific communities.
METHODS
As part of a large study to compare and evaluate patient self-phenotyping surveys, an online survey tool, Phenotypr, was developed for patients with rare disorders to self-report phenotypes. Participants with 16p13.11 microduplication syndrome were recruited through the Boston Children's Hospital 16p13.11 Registry. Either the caregiver, parent, or legal guardian of an affected child or the affected person (if aged 18 years or above) completed the survey. Results were securely transferred to a Research Electronic Data Capture database and aggregated for analysis.
RESULTS
A total of 19 participants enrolled in the study. Notably, among the 19 participants, aggression and anxiety were mentioned by 3 (16%) and 4 (21%) participants, respectively, which is an increase over the numbers in previously published literature. Additionally, among the 19 participants, 3 (16%) had asthma and 2 (11%) had other immunological disorders, both of which have not been previously described in the syndrome.
CONCLUSIONS
Several phenotypes might be underrepresented in the previous 16p13.11 microduplication literature, and new possible phenotypes have been identified. Whenever possible, patients should continue to be referenced as a source of complete phenotyping data on their condition. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders and may identify previously unreported phenotypes.
Identifiants
pubmed: 33724192
pii: v23i3e21023
doi: 10.2196/21023
pmc: PMC8074853
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e21023Subventions
Organisme : NICHD NIH HHS
ID : U54 HD090255
Pays : United States
Informations de copyright
©Jianqiao Li, Margaret A Hojlo, Sampath Chennuri, Nitin Gujral, Heather L Paterson, Kent A Shefchek, Casie A Genetti, Emily L Cohn, Kara C Sewalk, Emily A Garvey, Elizabeth D Buttermore, Nickesha C Anderson, Alan H Beggs, Pankaj B Agrawal, John S Brownstein, Melissa A Haendel, Ingrid A Holm, Joseph Gonzalez-Heydrich, Catherine A Brownstein. Originally published in the Journal of Medical Internet Research (http://www.jmir.org), 16.03.2021.
Références
J Biomed Inform. 2009 Apr;42(2):377-81
pubmed: 18929686
J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902
pubmed: 16849410
Front Psychiatry. 2019 Jun 21;10:440
pubmed: 31293459
Nucleic Acids Res. 2014 Jan;42(Database issue):D966-74
pubmed: 24217912
Hum Mutat. 2007 Jul;28(7):674-82
pubmed: 17480035
Schizophr Res. 2014 Aug;157(1-3):249-58
pubmed: 24882425
Dev Psychol. 2003 Mar;39(2):222-45
pubmed: 12661883
Open Biol. 2017 Nov;7(11):
pubmed: 29142105
Am J Med Genet A. 2016 May;170A(5):1165-73
pubmed: 26887912
Am J Hum Genet. 2008 Nov;83(5):610-5
pubmed: 18950739
J Med Genet. 2020 May;57(5):301-307
pubmed: 30287593
Child Psychiatry Hum Dev. 2006 Fall;37(1):1-14
pubmed: 16779500
J Med Genet. 2009 Apr;46(4):223-32
pubmed: 18550696
JAMA Neurol. 2013 Sep 1;70(9):1133-9
pubmed: 23877059
J Child Neurol. 1999 Jun;14(6):388-94
pubmed: 10385847
MCN Am J Matern Child Nurs. 2012 Jul-Aug;37(4):253-61
pubmed: 22739482
Prev Sci. 2011 Jun;12(2):192-200
pubmed: 21369841
PLoS Genet. 2011 Jun;7(6):e1002118
pubmed: 21698135
Lancet. 2011 Jul 2;378(9785):98
pubmed: 21724038
J Hum Genet. 2011 Jul;56(7):541-4
pubmed: 21614007
Front Psychiatry. 2017 Feb 16;8:25
pubmed: 28261116
Clin Genet. 2002 Nov;62(5):390-3
pubmed: 12431254
J Neuropsychiatry Clin Neurosci. 2011 Winter;23(1):90-7
pubmed: 21304144
CNS Spectr. 2003 Apr;8(4):298-308
pubmed: 12679744
Transl Psychiatry. 2011 Nov 15;1:e55
pubmed: 22833210
Lancet. 2010 Oct 23;376(9750):1401-8
pubmed: 20888040
Ann Neurol. 2007 Jan;61(1):25-36
pubmed: 17262855
Am J Obstet Gynecol. 1972 May 15;113(2):279
pubmed: 4557013
J Intellect Disabil Res. 2014 Jan;58(1):61-70
pubmed: 23902161
Curr Psychiatry Rep. 2019 Nov 18;21(12):123
pubmed: 31741142
JAMA Psychiatry. 2013 Aug;70(8):812-20
pubmed: 23760347
Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027
pubmed: 30476213
J Clin Endocrinol Metab. 2011 Jul;96(7):E1171-80
pubmed: 21508138
Biol Psychiatry. 2014 Feb 15;75(4):300-6
pubmed: 24199668
J Neurol. 2011 Apr;258(4):686-8
pubmed: 20972895
Autoimmun Rev. 2019 Sep;18(9):102348
pubmed: 31323365
Immunology. 2017 Nov;152(3):388-401
pubmed: 28704576
J Child Adolesc Psychopharmacol. 2019 Oct;29(8):576-591
pubmed: 31453715
Eur J Hum Genet. 2014 May;22(5):
pubmed: 24105370
Nature. 2009 May 28;459(7246):528-33
pubmed: 19404256
Genome Res. 2009 Sep;19(9):1579-85
pubmed: 19506092
Front Psychiatry. 2019 Mar 20;10:131
pubmed: 30949074
JAMA Psychiatry. 2013 Mar;70(3):271-8
pubmed: 23344076
J Atten Disord. 2008 Sep;12(2):126-34
pubmed: 17934178
Am J Psychiatry. 2011 Dec;168(12):1303-10
pubmed: 22193673
J Atten Disord. 2006 Nov;10(2):141-9
pubmed: 17085624
Nat Genet. 2018 Apr;50(4):474-476
pubmed: 29632381
Hum Mutat. 2015 Oct;36(10):974-8
pubmed: 26178529
Dev Med Child Neurol. 2016 Oct;58(10):1092-4
pubmed: 27255282
Baillieres Clin Endocrinol Metab. 1988 Aug;2(3):591-617
pubmed: 3066320
Eur J Neurodegener Dis. 2012 Dec;1(3):353-364
pubmed: 25285303
Br J Cancer. 1993 May;67(5):1036-41
pubmed: 8494696
Aggress Behav. 2006 Apr 1;32(2):159-171
pubmed: 20798781
PLoS Genet. 2010 May 20;6(5):e1000962
pubmed: 20502679
Lancet Neurol. 2008 Dec;7(12):1091-8
pubmed: 18851928
Lancet Psychiatry. 2017 Jan;4(1):42-48
pubmed: 27965002
Am J Med Genet B Neuropsychiatr Genet. 2011 Apr;156B(3):255-74
pubmed: 21438136
J Neurol Sci. 2011 Sep 15;308(1-2):152-4
pubmed: 21705029
J Autism Dev Disord. 2017 Dec;47(12):3679-3681
pubmed: 28988366
Eur J Hum Genet. 2011 Mar;19(3):280-6
pubmed: 21150890
Science. 2007 Apr 20;316(5823):445-9
pubmed: 17363630
Psychol Med. 1995 Jan;25(1):63-77
pubmed: 7792363
J Am Acad Child Adolesc Psychiatry. 2007 Mar;46(3):309-322
pubmed: 17314717
CNS Spectr. 2015 Jun;20(3):295-302
pubmed: 25997605
Hum Mutat. 2018 Nov;39(11):1668-1676
pubmed: 30311371