An Unusual Presentation of Osteogenesis Imperfecta: A Case Report.
Journal
JBJS case connector
ISSN: 2160-3251
Titre abrégé: JBJS Case Connect
Pays: United States
ID NLM: 101596828
Informations de publication
Date de publication:
22 11 2021
22 11 2021
Historique:
entrez:
22
11
2021
pubmed:
23
11
2021
medline:
5
4
2022
Statut:
epublish
Résumé
We report an 18-year-old patient with a clinical phenotype consistent with severe osteogenesis imperfecta (OI) with frequent fractures, short stature, shortening and bowing of extremities, and unusual radiographic features of severe fibrous dysplasia, including lytic lesions and a "ground-glass" appearance. Genetic testing for the patient was notable for a c.119C>T (p.Ser40Leu) variant in exon 1 of IFITM5 and a c.676C>A (Pro226Thr) variant in exon 5 of CREB3L1. This unusual skeletal presentation was in the setting of a rare IFITM5 mutation and represents a unique case of severe OI.
Identifiants
pubmed: 34807880
doi: 10.2106/JBJS.CC.21.00480
pii: 01709767-202112000-00059
doi:
Substances chimiques
Membrane Proteins
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
Copyright © 2021 by The Journal of Bone and Joint Surgery, Incorporated.
Déclaration de conflit d'intérêts
L.E. Nicol is a subinvestigator on a clinical research study sponsored by Mereo and receives travel funding from the OI foundation. None of the remaining authors have received funding or financial support for this project nor have any potential sources of conflict of interest. Disclosure: The Disclosure of Potential Conflicts of Interest forms are provided with the online version of the article (http://links.lww.com/JBJSCC/B721).
Références
Baldridge D, Schwarze U, Morello R, Lennington J, Bertin TK, Pace JM, Pepin MG, Weis M, Eyre DR, Walsh J, Lambert D, Green A, Robinson H, Michelson M, Houge G, Lindman C, Martin J, Ward J, Lemyre E, Mitchell JJ, Krakow D, Rimoin DL, Cohn DH, Byers PH, Lee B. CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta. Hum Mutat. 2008;29:1435-42.
Palomo T, Vilaça T, Lazaretti-Castro M. Osteogenesis imperfecta: diagnosis and treatment. Curr Opin Endocrinol Diabetes Obes. 2017;24:381-8.
Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. Type V osteogenesis imperfecta: a new form of brittle bone disease. J Bone Miner Res. 2000;15:1650-8.
Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16:101-16.
Van Dijk F, Sillence D. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164:1470-81.
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363:1377-85.
Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW. A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Gene. 2012;91:343-8.
Rauch F, Geng Y, Lamplugh L, Hekmatnejad B, Gaumond MH, Penney J, Yamanaka Y, Moffatt P. Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. Bone. 2018;107:131-42.
Patoine A, Gaumond MH, Jaiswal PK, Fassier F, Rauch F, Moffatt P. Topological mapping of BRIL reveals a type II orientation and effects of osteogenesis imperfecta mutations on its cellular destination. J Bone Miner Res. 2014;29:2004-16.
Rauch F, Moffatt P, Cheung M, Roughley P, Lalic L, Lund AM, Ramirez N, Fahiminiya S, Majewski J, Glorieux FH. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of the IFITM5 c.14C>T mutation in all patients. J Med Genet. 2013;50:21-4.
Shapiro JR, Lietman C, Grover M, Lu JT, Nagamani SC, Dawson BC, Baldridge DM, Bainbridge MN, Cohn DH, Blazo M, Roberts TT, Brennen FS, Wu Y, Gibbs RA, Melvin P, Campeau PM, Lee BH. Phenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutation. J Bone Miner Res. 2013;28:1523-30.
Cao YJ, Wei Z, Zhang H, Zhang ZL. Expanding the clinical spectrum of osteogenesis imperfecta type V: 13 additional patients and Review. Front Endocrinol (Lausanne). 2019;10:375.
Kim OH, Jin DK, Kosaki K, Kim JW, Cho SY, Yoo WJ, Choi IH, Nishimura G, Ikegawa S, Cho TJ. Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. Am J Med Genet A. 2013;161A:1972-9.
Brizola E, Mattos EP, Ferrari J, Freire PO, Germer R, Llerena JC, Félix TM. Clinical and molecular characterization of osteogenesis imperfecta type V. Mol Syndromol. 2015;6:164-72.
Guillén‐Navarro E, Juliana Ballesta-Martínez M, Valencia M, et al. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta. Am J Med Genet A. 2014;164:1136-42.
Farber CR, Barnes AM, Becerra P, et al. A novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factor. J Bone Miner Res Off J Am Soc Bone Miner Res. 2014;29:1402-11.
Andersson K, Malmgren B, Åström E, Nordgren A, Taylan F, Dahllöf G. Mutations in COL1A1/A2 and CREB3L1 are associated with oligodontia in osteogenesis imperfecta. Orphanet J Rare Dis. 2020;15:80.
Cayami FK, Maugeri A, Treurniet S, Setijowati ED, Teunissen BP, Eekhoff EMW, Pals G, Faradz SM, Micha D. The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1. Mol Genet Genomic Med. 2019;7:e823.