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Li J, Hojlo M, Chennuri S, Gujral N, Paterson H, Shefchek K, Genetti C, Cohn E, Sewalk K, Garvey E, Buttermore E, Anderson NC, Beggs A, Agrawal P, Brownstein JS, NA 1R, Haendel M, Holm IA, Gonzalez-Heydrich J, Brownstein CA
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study
Underrepresented Phenotypic Variability of 16p13.11 Microduplication Syndrome: Introduction of An Online Self-Phenotyping Tool
Jianqiao Li;
Margaret Hojlo;
Sampath Chennuri;
Nitin Gujral;
Heather Paterson;
Kent Shefchek;
Casie Genetti;
Emily Cohn;
Kara Sewalk;
Emily Garvey;
Elizabeth Buttermore;
Nickesha C Anderson;
Alan Beggs;
Pankaj Agrawal;
John S Brownstein;
16p13.11 Registry NA;
Melissa Haendel;
Ingrid A Holm;
Joseph Gonzalez-Heydrich;
Catherine A Brownstein
ABSTRACT
Background:
Background:
16p13.11 microduplication syndrome has a variable presentation and is characterized primarily by neurodevelopmental and physical phenotypes resulting from copy number variants (CNV) at chromosome 16p13.11. Given the 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 patients with 16p13.11 microduplication syndrome.
Objective:
1) Discover self-identified phenotypes in 16p13.11 microduplication that were underrepresented in the scientific literature; 2) demonstrate that self-phenotyping tools are valuable sources of data for the medical and scientific communities.
Methods:
An online survey called Phenotypr was completed for patients with 16p13.11 microduplication syndrome as part of a large study to compare Phenotypr and GenomeConnect (another patient self-phenotyping survey developed by ClinGen). A total of 19 participants enrolled and either the parent of an affected child or the affected person (if over 18 years of age) completed the survey. Results were transferred to REDCap and aggregated for analysis.
Results:
Aggression and anxiety were mentioned by 3/19 and 4/19 participants, respectively, an increase over previously published literature. 3/19 had asthma and 2/19 had other immunological disorders, both not previously described in the syndrome.
Conclusions:
Patients may be a better source of complete phenotyping data on their condition, as they live with all of the manifestations. Self-phenotyping may lead to a better understanding of the prevalence of phenotypes in genetic disorders, and may identify previously unreported phenotypes.
Citation
Please cite as:
Li J, Hojlo M, Chennuri S, Gujral N, Paterson H, Shefchek K, Genetti C, Cohn E, Sewalk K, Garvey E, Buttermore E, Anderson NC, Beggs A, Agrawal P, Brownstein JS, NA 1R, Haendel M, Holm IA, Gonzalez-Heydrich J, Brownstein CA
Underrepresentation of Phenotypic Variability of 16p13.11 Microduplication Syndrome Assessed With an Online Self-Phenotyping Tool (Phenotypr): Cohort Study