Musculoskeletal phenotypes in 3q29 deletion syndrome.
3q29 deletion
copy number variant
genomic disorder
musculoskeletal
orthopedic
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
revised:
20
07
2023
received:
03
04
2023
accepted:
10
08
2023
pmc-release:
01
11
2024
medline:
6
11
2023
pubmed:
11
9
2023
entrez:
11
9
2023
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 37691301
doi: 10.1002/ajmg.a.63384
pmc: PMC10662927
mid: NIHMS1937630
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
2749-2756Subventions
Organisme : NIMH NIH HHS
ID : R01 MH110701
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH126449
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM008490
Pays : United States
Organisme : NIH HHS
ID : T32 GM0008490
Pays : United States
Commentaires et corrections
Type : UpdateOf
Informations de copyright
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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