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Orthogenomics
Published in Kohlstadt Ingrid, Cintron Kenneth, Metabolic Therapies in Orthopedics, Second Edition, 2018
Joseph R. Veltmann, Roberta L. Kline
Candidate gene studies have uncovered different genes encoding for proteins that confer an increased susceptibility of hip or knee OA across a variety of molecular mechanisms. Examples are Wnt (wingless) cell signaling (FRZG) (26); extracellular proteins involved in cartilage anabolism (COL2 A1, COL9A2, COL1A1, COL1A2 and COMP (27–31) and catabolism (MMP-3 and ADAMTS-5) (32, 33); programmed cell death (FAS and TNF) (34); as well as mitochondrial apoptosis (ANP32A) (35), alterations in estrogen receptor status (36) and vitamin D metabolism (GC, VDR) (37).
Intervertebral Disc
Published in Manoj Ramachandran, Tom Nunn, Basic Orthopaedic Sciences, 2018
Will Aston, Alexander Montgomery, Rajiv Bajekal
The role of genetic predisposition is being increasingly recognized as a risk factor. Patients who are diagnosed with herniated discs before the age of 21 years are four to five times more likely to have a significant family history of disc herniation and similar magnetic resonance imaging (MRI) disc degeneration appearances have been noted in monozygotic twins. Genetic variations exist in the degree of synthesis and breakdown of structural components of the disc. Collagen IX encoding genes (COL9A2, COL9A3), genes encoding type I collagen (COL1A1-Sp1 binding site), Sox 9 (regulates the genes for aggrecan), vitamin D receptor gene and matrix metalloproteinase (MMP)-3 gene are some of those being studied for possible association with disc degeneration.
Genetic disorders, skeletal dysplasias and malformations
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Fergal Monsell, Martin Gargan, Deborah Eastwood, James Turner, Ryan Katchky
The most common inheritance pattern is autosomal dominant, but there is a less common and clinically distinct autosomal recessive form. The majority of individuals affected with dominant MED have mutations of the COMP (cartilage oligomeric protein) gene, with approximately 10% presenting with abnormalities of the MATN3 gene, both affecting matrix production and causing abnormalities of the physical and material properties of joint cartilage. Mutations of COL9A1, COL9A2 and COL9A3 are uncommon and cause accumulation of type IX collagen and also lead to abnormalities of articular cartilage.
High Myopia and Strabismus Induced by a Deep Intronic Mutation in COL2A1
Published in Current Eye Research, 2021
Shirel Rossenwasser-Weiss, Naama Orenstein, Alon Zahavi, Nitza Goldenberg-Cohen
Stickler syndrome is a connective tissue disorder of fibrillar collagen with an estimated prevalence of 1 in 7,500–9,000 neonates. It is inherited in both an autosomal dominant and autosomal recessive mode with phenotypically overlapping characteristics.1 Pathogenic variants COL2A1, COL11A1, or COL11A2 are inherited in an autosomal dominant manner; Stickler syndrome caused by pathogenic variants in COL9A1, COL9A2, or COL9A3 is inherited in an autosomal recessive manner.2–4
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
Published in Ophthalmic Genetics, 2021
Ulrika Kjellström, Susanne Martell, Cecilia Brobeck, Sten Andréasson
DNA sequencing demonstrated a homozygous pathogenic loss-of-function variant; c.1332del (p.(Val446Trpfs*85)), in exon 26 of the COL9A2 gene in both siblings and the parents were heterozygous for the same mutation. The c.1332 deletion leads to a shift of the reading frame resulting in a downstream premature stop-codon and thereby a non-functional gene product is translated. No additional mutations were found in other genes associated with Stickler syndrome.
Extracellular Matrix Remodeling During Palate Development
Published in Organogenesis, 2020
Xia Wang, Chunman Li, Zeyao Zhu, Li Yuan, Wood Yee Chan, Ou Sha
In human, mutation of COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 cause a group of hereditary conditions known as Stickler syndrome I–V, respectively, characterized by high myopia, retinal detachment, hearing loss, midfacial underdevelopment, and cleft palate is only described in Stickler syndrome I–III (Table 1).26-32