TY - JOUR
T1 - Underrepresentation of phenotypic variability of 16p13.11 microduplication syndrome assessed with an online self-phenotyping tool (Phenotypr)
T2 - Cohort study
AU - Li, Jianqiao
AU - Hojlo, Margaret A.
AU - Chennuri, Sampath
AU - Gujral, Nitin
AU - Paterson, Heather L.
AU - Shefchek, Kent A.
AU - Genetti, Casie A.
AU - Cohn, Emily L.
AU - Sewalk, Kara C.
AU - Garvey, Emily A.
AU - Buttermore, Elizabeth D.
AU - Anderson, Nickesha C.
AU - Beggs, Alan H.
AU - Agrawal, Pankaj B.
AU - Brownstein, John S.
AU - Haendel, Melissa A.
AU - Holm, Ingrid A.
AU - Gonzalez-Heydrich, Joseph
AU - Brownstein, Catherine A.
N1 - Funding Information:
This work was supported by the Patient-Centered Outcomes Research Institute (PCORI) (grant #HSRP20181624), Tommy Fuss Fund, Robin and Jonathan Klein Family, and National Institutes of Health U54 (HD090255).
Publisher Copyright:
© 2021 Journal of Medical Internet Research. All rights reserved.
PY - 2021/3
Y1 - 2021/3
N2 - 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.
AB - 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.
KW - 16p13.11 microduplication syndrome
KW - Copy number variation
KW - Digital health
KW - Genetics
KW - Human phenotype ontology
KW - Incomplete penetrance
KW - Online survey
KW - Phenotype
KW - Self-phenotyping
KW - Variable presentation
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U2 - 10.2196/21023
DO - 10.2196/21023
M3 - Article
C2 - 33724192
AN - SCOPUS:85103228090
SN - 1439-4456
VL - 23
JO - Journal of Medical Internet Research
JF - Journal of Medical Internet Research
IS - 3
M1 - e21023
ER -