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

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).

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Background: Kinesin motor proteins transport intracellular cargo, including mRNA, proteins, and organelles. Pathogenic variants in kinesin-related genes have been implicated in neurodevelopmental disorders and skeletal dysplasias. We identified de novo, heterozygous variants in KIF5B, encoding a kinesin-1 subunit, in four individuals with osteogenesis imperfecta.

Evaluating the Need for Preoperative MRI Before Primary Hip Arthroscopy in Patients 40 Years and Younger With Femoroacetabular Impingement Syndrome: A Multicenter Comparative Analysis.

Background: Routine hip magnetic resonance imaging (MRI) before arthroscopy for patients with femoroacetabular impingement syndrome (FAIS) offers questionable clinical benefit, delays surgery, and wastes resources.

Purpose: To assess the clinical utility of preoperative hip MRI for patients aged ≤40 years who were undergoing primary hip arthroscopy and who had a history, physical examination findings, and radiographs concordant with FAIS.

Study Design: Cohort study; Level of evidence, 3.

Preoperative Magnetic Resonance Imaging Offers Questionable Clinical Utility, Delays Time to Hip Arthroscopy, and Lacks Cost-Effectiveness in Patients Aged ≤40 Years With Femoroacetabular Impingement Syndrome: A Retrospective 5-Year Analysis.

Purpose: To assess the clinical utility of preoperative magnetic resonance imaging (MRI) and quantify the delay in surgical care for patients aged ≤40 years undergoing primary hip arthroscopy with history, physical examination, and radiographs concordant with femoroacetabular impingement syndrome (FAIS).

Methods: From August 2015 to December 2020, 1,786 consecutive patients were reviewed from the practice of 1 fellowship-trained hip arthroscopist. Inclusion criteria were FAIS, primary surgery, and age ≤40 years.