Related Experiment Video
Updated: Jan 20, 2026
09:26
An Efficient and Reproducible Protocol for Distraction Osteogenesis in a Rat Model Leading to a Functional Regenerated Femur
Published on: October 23, 2017
7.9K
Osteogenesis imperfecta in Brazilian patients
Maira Trancozo1,2, Marcos V D Moraes1,2, Dalila A Silva1,2
1Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Vitória, ES, Brazil.
Genetics and Molecular Biology
|August 21, 2019
Summary
Genetic testing for Osteogenesis Imperfecta (OI) in Brazil identified key mutations. Analyzing five specific genes, COL1A1, COL1A2, FKBP10, P3H1, and IFITM5, can diagnose over 95% of OI cases in this population.
Area of Science:
- Genetics
- Molecular Biology
- Orthopedics
Background:
- Osteogenesis Imperfecta (OI) is a genetic disorder causing bone fragility.
- Genetic diagnosis is challenging due to numerous causative genes (over 20).
- Identifying frequently mutated genes aids in developing diagnostic strategies.
Purpose of the Study:
- To characterize the mutation profile of OI in Brazilian patients.
- To identify the most prevalent causative genes in the Brazilian OI population.
- To assess the diagnostic yield of analyzing a targeted panel of OI genes.
Main Methods:
- Analysis of 30 unrelated Brazilian OI patients.
- Utilized SSCP screening, Next-Generation Sequencing (NGS) gene panel, and Sanger sequencing.
- Focused on 11 frequently mutated genes associated with OI.
Main Results:
- Disease-causing variants were identified in COL1A1, COL1A2, FKBP10, P3H1, and IFITM5.
- A total of 28 distinct mutations were found, including seven novel variants.
- Analysis of these five genes detected at least 95% of causative mutations in the studied Brazilian population.
Conclusions:
- The targeted analysis of COL1A1, COL1A2, FKBP10, P3H1, and IFITM5 is highly effective for diagnosing OI in Brazil.
- This focused approach significantly improves molecular diagnostic strategies for OI.
- Further studies in diverse populations are necessary due to potential variations in variant frequencies.
Related Concept Videos
01:13Patient-centered Care
2.9K
Patient-centered care involves delivering care beyond inpatient hospitalization. Reflective practice can enhance a patient-centered approach. Reflective practice is a process of reasoning that considers all aspects of the present situation, including practicalities, learning from personal practice, and consideration of patient needs. Patients appreciate care decisions made while considering their input. Involving the patient in their care provides the patient with a sense of contribution rather...
2.9K
01:21Drug Dosing: Obese Patients
232
In the United States, obesity is a prominent concern. It is linked to heightened mortality rates due to increased occurrences of conditions such as hypertension, atherosclerosis, coronary artery disease, and diabetes compared to nonobese individuals. A patient is classified as obese if their actual body weight surpasses the ideal or desirable body weight by 20%, based on Metropolitan Life Insurance Company data. Ideal body weights consider average weights and heights for males and females...
232
01:15Drug Dosing: Geriatric Patients
229
Elderly individuals encompass a diverse population with varying degrees of age-related physiological changes. Defining the elderly presents challenges, as the geriatric population is often arbitrarily categorized as individuals older than 65. However, many individuals in this group lead active and healthy lives, with an increasing number surpassing 85 years and falling into the older elderly category. Physiological changes associated with aging impact performance capacity and homeostatic...
229
01:17Pharmacokinetics in Pediatric Patients: Drug Distribution
261
Drug distribution in the pediatric population exhibits unique challenges and considerations due to the physiological differences between children, particularly neonates and infants, and adults. A crucial aspect of pediatric pharmacology is understanding how these differences impact the pharmacokinetics of various drugs, necessitating age-specific dosing strategies to ensure efficacy and safety.Neonates and infants have a higher total body water content, ~75%–90% of their body weight,...
261
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism
196
In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
196
01:27Pharmacodynamics in Geriatric Patients: Effects of Age
191
Age-related pharmacokinetic changes are extensively documented, but understanding age-related pharmacodynamic alterations is relatively limited. This knowledge gap can be partly attributed to the complexity of developing appropriate measures of drug responses compared to bioanalytical methods for determining drug concentrations.Most information regarding age-related differences in human pharmacodynamics originates from cross-sectional studies. However, these studies assume that observed mean...
191