The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.

doi:10.1172/JCI170369

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Article

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.

The Journal of clinical investigation - 17 Jun 2024

Marom Ronit, Song I-Wen, Busse Emily C, Washington Megan E, Berrier Ava S, Rossi Vittoria C, Ortinau Laura, Jeong Youngjae, Jiang Ming-Ming, Dawson Brian C, Adeyeye Mary, Leynes Carolina, Lietman Caressa D, Stroup Bridget M, Batkovskyte Dominyka, Jain Mahim, Chen Yuqing, Cela Racel, Castellon Alexis, Tran Alyssa A, Lorenzo Isabel, Meyers D Nicole, Huang Shixia, Turner Alicia, Shenava Vinitha, Wallace Maegen, Orwoll Eric, Park Dongsu, Ambrose Catherine G, Nagamani Sandesh Cs, Heaney Jason D, Lee Brendan H

Abstract excerpt

Osteogenesis imperfecta (OI) type V is the second most common form of OI, distinguished by hyperplastic callus formation and calcification of the interosseous membranes, in addition to the bone fragility. It is caused by a recurrent, dominant pathogenic variant (c.-14C>T) in interferon-induced transmembrane protein 5 (IFITM5). Here, we generated a conditional Rosa26-knockin mouse model to study the mechanistic...

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Identifiers

PMID: 38885336
DOI: 10.1172/JCI170369
PMCID: PMC11290974

Genes

IFITM5
SOX9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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