Pubertal growth in osteogenesis imperfecta caused by pathogenic variants in COL1A1/COL1A2.
COL1A1
COL1A2
Children
Osteogenesis imperfecta
Pubertal growth
Journal
Genetics in medicine : official journal of the American College of Medical Genetics
ISSN: 1530-0366
Titre abrégé: Genet Med
Pays: United States
ID NLM: 9815831
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
received:
05
01
2022
revised:
10
05
2022
accepted:
10
05
2022
pubmed:
4
6
2022
medline:
9
9
2022
entrez:
3
6
2022
Statut:
ppublish
Résumé
Short stature is common in osteogenesis imperfecta (OI) and is usually severe in OI types III and IV. The characteristics of pubertal growth in OI have not been studied in detail. We assessed 82 individuals with OI caused by pathogenic variants in COL1A1 or COL1A2 who had annual height data between 6 and 16 years of age at a minimum. Height velocity curves were fitted to each individual's height data to describe the pubertal growth spurt. Curve fitting was successful in 30 of the 33 individuals with OI type I (91%), in 23 of the 32 individuals with OI type IV (72%), and in 4 of the 17 participants with OI type III (24%). Pubertal growth spurt could be identified in most individuals with OI types I and IV, but rarely in OI type III. The timing of the pubertal growth spurt was similar between OI types I and IV in both sexes. However, height velocity was consistently higher in OI type I, leading to a widening height gap between OI types I and IV. A pubertal growth spurt was present in most individuals with OI types I and IV, but rarely in OI type III.
Identifiants
pubmed: 35657380
pii: S1098-3600(22)00774-2
doi: 10.1016/j.gim.2022.05.008
pii:
doi:
Substances chimiques
COL1A2 protein, human
0
Collagen Type I
0
Collagen Type I, alpha 1 Chain
0
Collagen Type I, alpha2 Subunit
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1920-1926Informations de copyright
Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest The authors state that they have the following disclosures: Marie-Eve Robinson: Ascendis Biopharma, study grant to institution; Ipsen Biopharmaceuticals and Ultragenyx Inc, consultancy fees to institution. Francis H. Glorieux: Novartis, Amgen, Mereo Biopharma, and Ultragenyx Inc, consulting fees and research grants. Frank Rauch: PreciThera Inc, Ultragenyx Inc, and Catabasis, study grants to institution. All other authors declare no conflicts of interest.