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Musculoskeletal phenotypes in 3q29 deletion syndrome
3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000–197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less w...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104205/ https://www.ncbi.nlm.nih.gov/pubmed/37066183 http://dx.doi.org/10.1101/2023.04.03.23288084 |
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author | Pollak, Rebecca M Tilmon, Jacob C Murphy, Melissa M Gambello, Michael J Russo, Rossana Sanchez Dormans, John P Mulle, Jennifer G |
author_facet | Pollak, Rebecca M Tilmon, Jacob C Murphy, Melissa M Gambello, Michael J Russo, Rossana Sanchez Dormans, John P Mulle, Jennifer G |
author_sort | Pollak, Rebecca M |
collection | PubMed |
description | 3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000–197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry (3q29deletion.org) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30 minutes or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population, suggesting 3q29del impacts bone strength. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome. |
format | Online Article Text |
id | pubmed-10104205 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cold Spring Harbor Laboratory |
record_format | MEDLINE/PubMed |
spelling | pubmed-101042052023-04-15 Musculoskeletal phenotypes in 3q29 deletion syndrome Pollak, Rebecca M Tilmon, Jacob C Murphy, Melissa M Gambello, Michael J Russo, Rossana Sanchez Dormans, John P Mulle, Jennifer G medRxiv Article 3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000–197350000). 3q29del is associated with neurodevelopmental and psychiatric phenotypes, including an astonishing >40-fold increased risk for schizophrenia, but medical phenotypes are less well-described. We used the online 3q29 registry (3q29deletion.org) to recruit 57 individuals with 3q29del (56.14% male) and requested information about musculoskeletal phenotypes with a custom questionnaire. 85.96% of participants with 3q29del reported at least one musculoskeletal phenotype. Congenital anomalies were most common (70.18%), with pes planus (40.35%), pectus excavatum (22.81%), and pectus carinatum (5.26%) significantly elevated relative to the pediatric general population. 49.12% of participants reported fatigue after 30 minutes or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population, suggesting 3q29del impacts bone strength. Participants commonly report receiving medical care for musculoskeletal complaints (71.93%), indicating that these phenotypes impact quality of life for individuals with 3q29del. This is the most comprehensive description of musculoskeletal phenotypes in 3q29del to date, suggests ideas for clinical evaluation, and expands our understanding of the phenotypic spectrum of this syndrome. Cold Spring Harbor Laboratory 2023-04-03 /pmc/articles/PMC10104205/ /pubmed/37066183 http://dx.doi.org/10.1101/2023.04.03.23288084 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/) , which allows reusers to copy and distribute the material in any medium or format in unadapted form only, for noncommercial purposes only, and only so long as attribution is given to the creator. |
spellingShingle | Article Pollak, Rebecca M Tilmon, Jacob C Murphy, Melissa M Gambello, Michael J Russo, Rossana Sanchez Dormans, John P Mulle, Jennifer G Musculoskeletal phenotypes in 3q29 deletion syndrome |
title | Musculoskeletal phenotypes in 3q29 deletion syndrome |
title_full | Musculoskeletal phenotypes in 3q29 deletion syndrome |
title_fullStr | Musculoskeletal phenotypes in 3q29 deletion syndrome |
title_full_unstemmed | Musculoskeletal phenotypes in 3q29 deletion syndrome |
title_short | Musculoskeletal phenotypes in 3q29 deletion syndrome |
title_sort | musculoskeletal phenotypes in 3q29 deletion syndrome |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104205/ https://www.ncbi.nlm.nih.gov/pubmed/37066183 http://dx.doi.org/10.1101/2023.04.03.23288084 |
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