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
Till Joscha Demal, Tasja Scholz, Helke Schueler, Jakob Olfe, Anja Froehlich, Fabian Speth, Yskert von Kodolitsch, Thomas S. Mir, Hermann Reichenspurner, Christian Kubisch, Maja Hempel, Georg Rosenberger
Summary: This study reports novel gene mutations in four patients with a MASS-like phenotype, expanding the phenotypic spectrum of type II collagenopathies and suggesting an association between a MASS-like phenotype and various hereditary connective tissue disorders. Further research is needed to explore the pathomechanisms and genotype-phenotype correlations of identified COL2A1 variants.
SCIENTIFIC REPORTS
(2022)
Article
Medical Laboratory Technology
Tangjun Zhou, Xiao Yang, Zhiqian Chen, Yifan Zhou, Xiankun Cao, Changqing Zhao, Jie Zhao
Summary: This study reported the first discovery of a COL2A1 gene mutation (c.2437G>A; p. Gly813Arg) causing spondyloepiphyseal dysplasia congenita in a Chinese patient. The patient exhibited typical SEDC symptoms, while no same gene mutation or symptoms were observed in his family members.
JOURNAL OF CLINICAL LABORATORY ANALYSIS
(2021)
Article
Genetics & Heredity
Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, Xueping Shen
Summary: In this study, a novel variant in the COL2A1 gene was found to be associated with Spondyloepiphyseal dysplasia congenital (SEDC). Splicing experiments confirmed that the variant affected the splicing of the COL2A1 protein, resulting in the production of an alternatively spliced transcript with a 15 amino acid deletion. Prenatal diagnosis revealed that the fetus carried the same mutation.
FRONTIERS IN GENETICS
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Atsuhiko Handa, Giedre Grigelioniene, Gen Nishimura
Summary: Type II collagenopathies are skeletal dysplasias caused by pathogenic variants in the COL2A1 gene, with associated vitreoretinal and hearing impairments. Radiologically, they can be divided into the SEDC and Kniest-Stickler groups.
Article
Endocrinology & Metabolism
Ting Zhang, Xueping Sun, Mei Li, Huan Huang
Summary: This study identified a novel mutation in COL2A1 related to lethal skeletal dysplasia and expanded the mutation spectrum of type II collagenopathies. By utilizing zebrafish models and assisted reproduction technology, a child free of genetic disease similar to the proband was successfully born, offering a new strategy for patients with variants of unknown significance.
Article
Genetics & Heredity
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Giglio, Rodolfo Iuliano
Summary: A novel splicing variant of COL2A1 was reported in a fetus with ACG2, suggesting the potential relevance of in-frame deletions in determining the phenotype of skeletal dysplasia. Future research should focus on the significance of in-frame deletions in the context of skeletal dysplasia.
Article
Cell Biology
Francesca Zappa, Daniela Intartaglia, Andrea M. Guarino, Rossella De Cegli, Cathal Wilson, Francesco Giuseppe Salierno, Elena Polishchuk, Nicolina Cristina Sorrentino, Ivan Conte, Maria Antonietta De Matteis
Summary: The study reveals the association between Sedlin deficiency and skeletal dysplasia, as well as impaired organ development, providing evidence for a mechanistic link between TRAPPC2 gene mutations and SEDT.
Review
Orthopedics
Zan Chen, Zheyi Zhang, Fei Ye, Fei Lei, Daxiong Feng
Summary: Spondyloepiphyseal dysplasia tarda (SEDT) is a rare, hereditary skeletal disorder, and this study reports a patient undergoing spinal and fracture reduction surgery with satisfactory outcomes. Early diagnosis is crucial for the treatment of SEDT, and while surgical intervention can improve neurological function and quality of life, it does not alter the progression of the disease.
BMC MUSCULOSKELETAL DISORDERS
(2022)
Article
Pediatrics
Congli Chen, Jin Wu, Ying Liu
Summary: This article reports a 6-year-old boy diagnosed with SedKF who underwent 3 years of growth hormone therapy. Genetic examination revealed two new nonsense variants in the MBTPS1 gene. The study found that the MBTPS1 gene is associated with SedKF.
FRONTIERS IN PEDIATRICS
(2023)
Article
Multidisciplinary Sciences
Tsukasa Kitahashi, Ryo Kogawa, Kentaro Nakamura, Ichiro Sekiya
Summary: This study found that synovial MSCs promote meniscus regeneration through adhesion to integrin beta 1 in the meniscectomized region, proliferation by PDGFR beta, and cartilage matrix production from type II collagen.
SCIENTIFIC REPORTS
(2022)
Article
Chemistry, Applied
Yadong Zhao, Kunyu Lu, Xinyue Piao, Yan Song, Libin Wang, Rusen Zhou, Pingping Gao, Heng Yen Khong
Summary: This study evaluated the effect of adding collagen on the gel properties of surimi and observed the influence of collagen type for the first time. Compared to type II, collagen type I has higher water solubility and more charged amino acids, which allows it to better intertwine with surimi myofibrillar proteins, resulting in higher exposure of protein functional domains, more conformational changes of myosin, and stronger formation of chemical forces among proteins. These improvements accelerate the gelation rate, leading to a well-stabilized surimi gel. Surimi gels containing collagen I have more compact structures with uniformly distributed smaller pores compared to those containing collagen II, resulting in higher water holding capacity and better texture. The fortification performance of collagen I in surimi gel and the elucidated interaction mechanism between collagen and myofibrillar protein will guide the further use of collagen as an effective additive in the food industry.
Article
Genetics & Heredity
Zeng Zhang, Kechao Zhu, Huiyong Dai, Qi Wang, Changqing Zhang, Zhenlin Zhang
Summary: ANFH is a debilitating bone disease linked to mutations in the COL2A1 gene. The study provides important clues for the phenotype-genotype relationships in familial ANFH.
BMC MEDICAL GENOMICS
(2021)
Article
Orthopedics
Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi
Summary: This study describes the clinical and molecular findings of three unrelated families with spondyloepiphyseal dysplasia. The results confirm phenotypic variability and broaden the genotypic spectrum of spondyloepiphyseal dysplasia.
BMC MUSCULOSKELETAL DISORDERS
(2022)
Article
Biochemistry & Molecular Biology
Mohammad Shboul, Hela Sassi, Houweyda Jilani, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Lamia Ben Jemaa, Marwa Hilmi, Susanna Gerit Kircher, Ali Al Kaissi
Summary: The study focused on investigating the phenotypic and genotypic characteristics resulting from glycine to serine mutations in the COL2A1 gene in a 2-year-old boy. A de novo mutation was identified in the collagen type II alpha-1 gene, leading to impaired protein stability and dysfunction of type II collagen, resulting in growth retardation and intellectual disability in the patient.
AIMS MOLECULAR SCIENCE
(2021)
