Article
Medical Laboratory Technology
Se Jin Park, Ju Young Kim, Hye-Jeong Ahn, Haing-Woon Baik, Ju Hyung Kang
Summary: This study investigated the clinical and genetic manifestations in a 7-year-old boy with Osteogenesis imperfecta (OI) and his family members, finding that the OI-related genetic mutation in the patient was inherited from his mother while the GS-related genetic mutations were inherited from both parents. It is the first study to identify compound heterozygous variants in the SLC12A3 gene and a novel mutation in the COL1A1 gene in patients with OI and GS, highlighting the importance of genetic analysis in accurately diagnosing these conditions.
CLINICA CHIMICA ACTA
(2021)
Article
Genetics & Heredity
Ilya S. Dantsev, Mariia A. Parfenenko, Gulnara M. Radzhabova, Ekaterina A. Nikolaeva
Summary: Osteoporosis is a systemic disorder of bone mineralization, influenced by multiple factors including genetics. Variants in the FGFR2 gene have been found to be associated with heritable osteoporosis. Molecular genetic testing can aid in differentiating between osteoporosis and other bone mineralization disorders.
BMC MEDICAL GENOMICS
(2023)
Article
Endocrinology & Metabolism
Jing Hu, Xiaoyun Lin, Peng Gao, Qian Zhang, Bingna Zhou, Ou Wang, Yan Jiang, Weibo Xia, Xiaoping Xing, Mei Li
Summary: Mutations in the WNT1 gene can cause rare inherited disorders such as osteogenesis imperfecta (OI) and early-onset osteoporosis (EOOP), with biallelic nonsense or frameshift mutations leading to earlier occurrence of fragility fractures and more severe skeletal phenotypes. Rare comorbidities including cerebral abnormalities, hematologic diseases, and pituitary adenoma were identified in patients with WNT1 mutations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
C. Valera Ribera, A. Martinez-Ferrer, E. Flores Fernandez, I Vazquez Gomez, A. Orenes Vera, E. Valls Pascual, D. Ybanez Garcia, J. J. Alegre Sancho
Summary: Snyder-Robinson syndrome, a rare genetic disorder, may be misdiagnosed leading to inappropriate treatment. After a decade of bisphosphonate treatment resulting in an atypical femoral fracture, the patient was switched to a different treatment regimen with positive outcomes in bone health.
OSTEOPOROSIS INTERNATIONAL
(2022)
Review
Genetics & Heredity
Letteria Anna Morabito, Anna Elsa Maria Allegri, Anna Paola Capra, Mario Capasso, Valeria Capra, Alberto Garaventa, Mohamad Maghnie, Silvana Briuglia, Malgorzata Gabriela Wasniewska
Summary: Osteogenesis imperfecta/Ehlers-Danlos (OI/EDS) overlap syndrome is a clinical entity characterized by features of both osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS). This article reports a case of a young Caucasian girl with severe short stature and a previous history of neuroblastoma, who displayed the compound phenotype of OI/EDS.
Article
Genetics & Heredity
Meng-Che Tsai, Yen-Yin Chou, Chia-Yi Li, Yi-Chieh Wang, Hui-Wen Yu, Chia-Hsiang Chen, Peng-Chieh Chen
Summary: Collagenopathy is a rare genetic condition characterized by abnormalities in collagen structure or metabolism, with whole exome sequencing being a fast and accurate method to identify genetic causes in most cases. Multiple genetic characterizing technologies can provide an accurate and efficient molecular diagnostic of new genetic variants in disease-causing genes that are compatible with clinical phenotypes.
FRONTIERS IN GENETICS
(2021)
Article
Multidisciplinary Sciences
Joohyun Lim, Caressa Lietman, Matthew W. Grol, Alexis Castellon, Brian Dawson, Mary Adeyeye, Jyoti Rai, MaryAnn Weis, Douglas R. Keene, Ronen Schweitzer, Dongsu Park, David R. Eyre, Deborah Krakow, Brendan H. Lee
Summary: This study reveals that defects in Fkbp10 in tendons and ligaments can cause joint dysfunction in osteogenesis imperfecta, involving ectopic chondrogenesis and dysregulated Hedgehog signaling.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Endocrinology & Metabolism
Kaitlin L. Ballenger, Nicol Tugarinov, Sara K. Talvacchio, Marianne M. Knue, An N. Dang Do, Mark A. Ahlman, James C. Reynolds, Jack A. Yanovski, Joan C. Marini
Summary: Adiposity and resting energy expenditure (REE) do not significantly differ between patients with osteogenesis imperfecta (OI) and BMI-similar healthy controls (HC). However, reduced REE among patients with non-collagen variants may contribute to greater adiposity.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Juliana Marulanda, Karissa Ludwig, Francis Glorieux, Brendan Lee, V. Reid Sutton, Jean-Marc Retrouvey, Frank Rauch
Summary: This study describes the craniofacial and dental symptoms in two girls with CRTAP mutations. The severity of the craniofacial phenotype in these patients mirrors the severity of the skeletal phenotype, with both exhibiting class III malocclusion and antero-posterior crossbite.
Article
Genetics & Heredity
Kai Yang, Yan Liu, Jue Wu, Jing Zhang, Hua-ying Hu, You-sheng Yan, Wen-qi Chen, Shu-fa Yang, Li-juan Sun, Yong-qing Sun, Qing-qing Wu, Cheng-hong Yin
Summary: This study investigated prenatal osteogenesis imperfecta (OI) cases and identified OI-associated variants in the COL1A1/2 genes in all ten cases. Six of these variants were novel, and the study also observed distinctive clinical and/or genetic characteristics, including intrafamilial phenotypic variability, parental mosaicism, and dual nosogenesis.
Article
Genetics & Heredity
Petar Brlek, Darko Anticevic, Vilim Molnar, Vid Matisic, Kristina Robinson, Swaroop Aradhya, Dalibor Krpan, Dragan Primorac
Summary: Osteogenesis imperfecta (OI) is a complex genetic bone disease caused by mutations in various genes, and recent molecular studies on signaling pathways have contributed to a better understanding of its pathogenesis.
Article
Endocrinology & Metabolism
S. J. E. Verdonk, S. Storoni, L. Zhytnik, W. Zhong, G. Pals, B. J. van Royen, M. W. Elting, A. Maugeri, E. M. W. Eekhoff, D. Micha
Summary: Pathogenic variants in the LRP5, PLS3, or WNT1 genes can significantly affect bone mineral density, causing monogenic osteoporosis. This study analyzed the medical care utilization of Dutch individuals with these variants and found that they required more medical care than the overall population and had a higher risk of hearing-related problems.
CALCIFIED TISSUE INTERNATIONAL
(2023)
Review
Endocrinology & Metabolism
Outi Makitie, M. Carola Zillikens
Summary: Osteoporosis is a skeletal disorder affecting mainly the elderly, characterized by low bone density and fragility fractures. In children and young adults, investigations should explore the possibility of underlying monogenetic bone diseases when fragility fractures occur. Management involves treating secondary factors, optimizing lifestyle factors, and discussing personalized bone-active medication based on severity of osteoporosis and underlying diseases.
CALCIFIED TISSUE INTERNATIONAL
(2022)
Review
Genetics & Heredity
Catherine L. Omosule, Charlotte L. Phillips
Summary: Myostatin plays a crucial role in muscle morphology and function, cellular differentiation and metabolism, as well as bone integrity and bone cell biology, impacting the pathophysiology of various human diseases. Pharmacological inhibition of myostatin shows promise in improving muscle and bone properties in diseases like osteogenesis imperfecta, osteoporosis, and Duchenne muscular dystrophy, suggesting potential therapeutic applications in the future. However, challenges remain in the translational application of myostatin inhibition in diseases with significant neuromuscular wasting and atrophy, necessitating further exploration and research.
FRONTIERS IN GENETICS
(2021)
Article
Endocrinology & Metabolism
Alexandre Mercier-Guery, Marjorie Millet, Blandine Merle, Corinne Collet, Flora Bagouet, Olivier Borel, Elisabeth Sornay-Rendu, Pawel Szulc, Emmanuelle Vignot, Deborah Gensburger, Elisabeth Fontanges, Martine Croset, Roland Chapurlat
Summary: miRNAs are potential prognostic markers in bone diseases, regulating gene expression as epigenetic factors. This study aims to identify circulating miRNAs associated with the severity of osteogenesis imperfecta (OI) and found a miRNA signature in OI patients. The study validates the expression of specific miRNAs in OI patients and explores the relationship between miRNA expression and clinical characteristics of OI. The findings suggest a potential role of miRNAs in regulating the physiopathology of OI.
JOURNAL OF BONE AND MINERAL RESEARCH
(2023)