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[Preprint]. 2023 Apr 3:2023.04.03.23288084.
doi: 10.1101/2023.04.03.23288084.

Musculoskeletal phenotypes in 3q29 deletion syndrome

Rebecca M Pollak  1 , Jacob C Tilmon  2 , Melissa M Murphy  3 , Michael J Gambello  4 , Rossana Sanchez Russo  4 , John P Dormans  5 , Jennifer G Mulle  1   6
Affiliations

Musculoskeletal phenotypes in 3q29 deletion syndrome

Rebecca M Pollak et al. medRxiv. .

Update in

  • Musculoskeletal phenotypes in 3q29 deletion syndrome.
    Pollak RM, Tilmon JC, Murphy MM, Gambello MJ, Sanchez Russo R, Dormans JP, Mulle JG. Pollak RM, et al. Am J Med Genet A. 2023 Nov;191(11):2749-2756. doi: 10.1002/ajmg.a.63384. Epub 2023 Sep 10. Am J Med Genet A. 2023. PMID: 37691301 Free PMC article.

Abstract

3q29 deletion syndrome (3q29del) is a rare genomic disorder caused by a 1.6 Mb deletion (hg19, chr3:195725000â€"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.

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Conflict of interest statement

Competing interests: The authors have no conflicts of interest to report.

Figures

Figure 1.
Figure 1.. Musculoskeletal phenotypes reported by participants with 3q29del.
Rate of musculoskeletal phenotypes across four categories reported by participants with 3q29del (n = 57).
Figure 2.
Figure 2.. Specific musculoskeletal phenotypes reported by participants with 3q29del.
A) Rate of congenital musculoskeletal phenotypes reported by participants with 3q29del (n = 57). B) Rate of joint phenotypes reported by participants with 3q29del (n = 57). C) Amount of physical activity until becoming fatigued reported by participants with 3q29del (n = 57).
Figure 3.
Figure 3.. Medical interventions reported by participants with 3q29del.
Rate of medical interventions received for musculoskeletal phenotypes reported by participants with 3q29del (n = 57), showing high rates of medical care needed for musculoskeletal concerns.
See this image and copyright information in PMC

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References

    1. Al-Kateb H., Khanna G., Filges I., Hauser N., Grange D. K., Shen J., Smyser C. D., Kulkarni S., & Shinawi M. (2014). Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. American Journal of Medical Genetics. Part A, 164a(5), 1118–1126. 10.1002/ajmg.a.36401 - DOI - PubMed
    1. Andersen L. K., Knak K. L., Witting N., & Vissing J. (2016). Two- and 6-minute walk tests assess walking capability equally in neuromuscular diseases. Neurology, 86(5), 442–445. 10.1212/wnl.0000000000002332 - DOI - PubMed
    1. Ballif B. C., Theisen A., Coppinger J., Gowans G. C., Hersh J. H., Madan-Khetarpal S., Schmidt K. R., Tervo R., Escobar L. F., Friedrich C. A., McDonald M., Campbell L., Ming J. E., Zackai E. H., Bejjani B. A., & Shaffer L. G. (2008). Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Molecular Cytogenetics, 1, 8. 10.1186/1755-8166-1-8 - DOI - PMC - PubMed
    1. Bassett A. S., Chow E. W., Husted J., Weksberg R., Caluseriu O., Webb G. D., & Gatzoulis M. A. (2005). Clinical features of 78 adults with 22q11 Deletion Syndrome. American Journal of Medical Genetics. Part A, 138(A), 307–313. 10.1002/ajmg.a.30984 - DOI - PMC - PubMed
    1. Chapman C. A., du Plessis A., & Pober B. R. (1996). Neurologic findings in children and adults with Williams syndrome. J Child Neurol, 11(1), 63–65. 10.1177/088307389601100116 - DOI - PubMed

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