Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study.
Type I collagen
hearing loss
natural history study
osteogenesis imperfecta
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:
04 2020
04 2020
Historique:
received:
13
10
2019
accepted:
05
12
2019
pubmed:
27
12
2019
medline:
4
2
2021
entrez:
27
12
2019
Statut:
ppublish
Résumé
Hearing loss (HL) is an extra-skeletal manifestation of the connective tissue disorder osteogenesis imperfecta (OI). Systematic evaluation of the prevalence and characteristics of HL in COL1A1/COL1A2-related OI will contribute to a better clinical management of individuals with OI. We collected and analyzed pure-tone audiometry data from 312 individuals with OI who were enrolled in the Linked Clinical Research Centers and the Brittle Bone Disorders Consortium. The prevalence, type, and severity of HL in COL1A1/COL1A2-related OI are reported. We show that the prevalence of HL in OI is 28% and increased with age in Type I OI but not in Types III and IV. Individuals with OI Types III and IV are at a higher risk to develop HL in the first decade of life when compared to OI Type I. We also show that the prevalence of SNHL is higher in females with OI compared to males. This study reveals new insights regarding prevalence of HL in OI including a lower general prevalence of HL in COL1A1/COL1A2-related OI than previously reported (28.3 vs. 65%) and high prevalence of SNHL in females. Our data support the need in early routine hearing evaluation in all types of OI that can be adjusted to the severity of the skeletal disease.
Identifiants
pubmed: 31876392
doi: 10.1002/ajmg.a.61464
pmc: PMC7385724
mid: NIHMS1603328
doi:
Substances chimiques
COL1A2 protein, human
0
Collagen Type I
0
Collagen Type I, alpha 1 Chain
0
Types de publication
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
697-704Subventions
Organisme : NICHD NIH HHS
ID : P50 HD103555
Pays : United States
Organisme : NIGMS NIH HHS
ID : T32 GM007526
Pays : United States
Organisme : NIAMS NIH HHS
ID : U54 AR068069
Pays : United States
Organisme : NCATS NIH HHS
ID : 1U54AR068069-0
Pays : United States
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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