Journal of Clinical Pediatrics >
New advances in the study of cartilage extracellular matrix gene regulation and genetic defects
Received date: 2023-08-29
Online published: 2024-02-02
The formation and development of growth plate cartilage is a sophisticated biological phenomenon that is governed by a combination of extracellular matrix (ECM), intracellular signaling, paracrine signaling and endocrine signaling. The ECM plays a critical role in providing structural support to chondrocytes and acts as a mediator for the transport of growth factors and associated signaling molecules that control chondrocyte growth and development. This review provides a comprehensive examination of the composition and physiological role of the cartilage ECM, explores the impact of pathogenic variants in genes responsible for encoding the cartilage ECM on skeletal development, investigates the specific phenotypes associated with such defects and establishes a correlation between pathogenic gene variants and phenotypic outcomes aiming to provide novels insights for clinical diagnosis and managements.
Yuyu Reviewer: JIN , Feihong Reviser: LUO . New advances in the study of cartilage extracellular matrix gene regulation and genetic defects[J]. Journal of Clinical Pediatrics, 2024 , 42(2) : 164 -170 . DOI: 10.12372/jcp.2024.23e0827
| [1] | Uchida N, Shibata H, Nishimura G, et al. A novel mutation in the ACAN gene in a family with autosomal dominant short stature and intervertebral disc disease[J]. Hum Genome Var, 2020, 7(1): 44. |
| [2] | Aza-Carmona M, Barca-Tierno V, Hisado-Oliva A, et al. NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development[J]. PloS One, 2014, 9(1): e83104. |
| [3] | Stattin EL, Wiklund F, Lindblom K, et al. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans[J]. Am J Hum Genet, 2010, 86(2): 126-137. |
| [4] | Ye X, Fang D, He Y, et al. Dual diagnosis of osteogenesis imperfecta (OI) and short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) reveals a cumulative effect on stature caused by mutations in COL1A1 and ACAN genes[J]. Eur J Med Genet, 2020, 63(12): 104074. |
| [5] | Faienza MF, Chiarito M, Brunetti G, et al. Growth plate gene involment and isolated short stature[J]. Endocrine, 2021, 71(1): 28-34. |
| [6] | Perera RS, Dissanayake PH, Senarath U, et al. Variants of ACAN are associated with severity of lumbar disc herniation in patients with chronic low back pain[J]. PloS One, 2017, 12(7): e0181580. |
| [7] | Lauing KL, Cortes M, Domowicz MS, et al. Aggrecan is required for growth plate cytoarchitecture and differentiation[J]. Dev Biol, 2014, 396(2): 224-236. |
| [8] | Wu H, Wang C, Yu S, et al. Downregulation of ACAN is associated with the growth hormone pathway and induces short stature[J]. J Clin Lab Anal, 2023, 37(2): e24830. |
| [9] | Lv S, Zhao J, Liu L, et al. Exploring and expanding the phenotype and genotype diversity in seven Chinese families with spondylo-epi-metaphyseal dysplasia[J]. Front Genet, 2022, 13: 960504. |
| [10] | Dirani M, Cuenca VD, Romero VI. COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: a case report[J]. Front Surg, 2022, 9: 986372. |
| [11] | Rauch D, Robinson ME, Seiltgens C, et al. Assessment of longitudinal bone growth in osteogenesis imperfecta using metacarpophalangeal pattern profiles[J]. Bone, 2020, 140: 115547. |
| [12] | Gremminger VL, Jeong Y, Cunningham RP, et al. Compromised exercise capacity and mitochondrial dysfunction in the osteogenesis imperfecta murine (oim) mouse model[J]. J Bone Miner Res, 2019, 34(9): 1646-1659. |
| [13] | Guerin A, Dupuis L, Mendoza-Londono R. Caffey Disease[M/OL]// AdamMP, FeldmanJ, MirzaaGM, et al. GeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle, 1993—2023 [2023-08-14]. http://www.ncbi.nlm.nih.gov/books/NBK99168/. |
| [14] | Deguchi M, Tsuji S, Katsura D, et al. Current overview of osteogenesis imperfect[J]. Medicina (Kaunas), 2021, 57(5): 464. |
| [15] | Zheng WB, Li LJ, Zhao DC, et al. Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita[J]. Mol Genet Genomic Med, 2020, 8(3): e1139. |
| [16] | Akahira-Azuma M, Enomoto Y, Nakamura N, et al. Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita[J]. Hum Genome Var, 2022, 9(1): 16. |
| [17] | Kong L, Shi L, Wang W, et al. Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia[J]. BMC Med Genet, 2019, 20(1): 200. |
| [18] | Wu H, Wang S, Li G, et al. Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review[J]. Mol Genet Genomic Med, 2021, 9(5): e1668. |
| [19] | Dennis EP, Greenhalgh-Maychell PL, Briggs MD. Multiple epiphyseal dysplasia and related disorders: molecular genetics, disease mechanisms, and therapeutic avenues[J]. Dev Dyn, 2021, 250(3): 345-359. |
| [20] | Scheiber AL, Wilkinson KJ, Suzuki A, et al. 4PBA reduces growth deficiency in osteogenesis imperfecta by enhancing transition of hypertrophic chondrocytes to osteoblasts[J]. JCI insight, 2022, 7(3): e149636. |
| [21] | Plachy L, Dusatkova P, Maratova K, et al. Familial short stature-a novel phenotype of growth plate collagenopathies[J]. J Clin Endocrinol Metab, 2021, 106(6): 1742-1749. |
| [22] | Guo BB, Jin JY, Yuan ZZ, et al. A novel COMP mutated allele identified in a Chinese family with pseudoachondroplasia[J]. Biomed Res Int, 2021, 2021: 6678531. |
| [23] | Forte-Gomez HF, Gioia R, Tonelli F, et al. Structure, evolution and expression of zebrafish cartilage oligomeric matrix protein (COMP, TSP5). CRISPR-Cas mutants show a dominant phenotype in myosepta[J]. Front Endocrinol (Lausanne), 2022, 13: 1000662. |
| [24] | Li C, Wang N, Sch?ffer AA, et al. Mutations in COMP cause familial carpal tunnel syndrome[J]. Nat Commun, 2020, 11(1): 3642. |
| [25] | Rochoux Q, Sopkova-de Oliveira Santos J, Marcelli C, et al. Description of joint alterations observed in a family carrying p.Asn453Ser COMP variant: clinical phenotypes, in silico prediction of functional impact on COMP protein and stability, and review of the literature[J]. Biomolecules, 2021, 11(10): 1460. |
| [26] | Weiner DS, Guirguis J, Makowski M, et al. Orthopaedic manifestations of pseudoachondroplasia[J]. J Child Orthop, 2019, 13(4): 409-416. |
| [27] | Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations[J]. Hum Mutat, 2002, 19(5): 465-478. |
| [28] | Jayasuriya CT, Goldring MB, Terek R, et al. Matrilin-3 induction of IL-1 receptor antagonist is required for up-regulating collagen Ⅱ and aggrecan and down-regulating ADAMTS-5 gene expression[J]. Arthritis Res Ther, 2012, 14(5): R197. |
| [29] | Cotterill SL, Jackson GC, Leighton MP, et al. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3[J]. Hum Mutat, 2005, 26(6): 557-565. |
| [30] | Briggs MD, Bell PA, Pirog KA. The utility of mouse models to provide information regarding the pathomolecular mechanisms in human genetic skeletal diseases: the emerging role of endoplasmic reticulum stress (Review)[J]. Int J Mol Med, 2015, 35(6): 1483-1492. |
| [31] | Huang L, Xu T, Gan J, et al. Zonule-associated gene variants in isolated ectopia lentis and glaucoma[J]. J Glaucoma, 2023, 32(7): e80-e89. |
| [32] | Haji-Seyed-Javadi R, Jelodari-Mamaghani S, Paylakhi SH, et al. LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix[J]. Hum Mutat, 2012, 33(8): 1182-1187. |
| [33] | Chen HX, Yang ZY, Hou HT, et al. Novel mutations of TCTN3/LTBP2 with cellular function changes in congenital heart disease associated with polydactyly[J]. J Cell Mol Med, 2020, 24(23): 13751-13762. |
| [34] | Cadoff EB, Sheffer R, Wientroub S, et al. Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia[J]. Clin Genet, 2018, 94(5): 429-437. |
| [35] | Yang C, Wang C, Zhou J, et al. Fibronectin 1 activates WNT/β-catenin signaling to induce osteogenic differentiation via integrin β1 interaction[J]. Lab Invest, 2020, 100(12): 1494-1502. |
| [36] | Sabir AH, Singhal J, Man J, et al. Automated reanalysis, a novel way to diagnose an ultra-rare condition: fibronectin-1-related spondylometaphyseal dysplasia (SMD-FN1)[J]. Clin Dysmorphol, 2021, 30(3): 154-158. |
| [37] | Shen R, Feng JH, Yang SP. Acromicric dysplasia caused by a mutation of fibrillin 1 in a family: a case report[J]. World J Clin Cases, 2023, 11(9): 2036-2042. |
| [38] | Wang T, Yang Y, Dong Q, et al. Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: case report and literature review[J]. Mol Genet Genomic Med, 2020, 8(7): e1282. |
| [39] | Mortier GR, Cohn DH, Cormier-Daire V, et al. Nosology and classification of genetic skeletal disorders: 2019 revision[J]. Am J Med Genet A, 2019, 179(12): 2393-2419. |
| [40] | Asgari S, Luo Y, Akbari A, et al. A positively selected FBN1 missense variant reduces height in Peruvian individuals[J]. Nature, 2020, 582(7811): 234-239. |
/
| 〈 |
|
〉 |
