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. 2023 Nov;191(11):2749-2756.
doi: 10.1002/ajmg.a.63384. Epub 2023 Sep 10.

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. Am J Med Genet A. 2023 Nov.

Abstract

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 of 206 individuals (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 min or less of activity. Bone fractures (8.77%) were significantly elevated relative to the pediatric general population. 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.

Keywords: 3q29 deletion; copy number variant; genomic disorder; musculoskeletal; orthopedic.

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Conflict of interest statement

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

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