spondyloepiphyseal dysplasia
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Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 137
Author(s):  
Tatyana Markova ◽  
Vladimir Kenis ◽  
Evgeniy Melchenko ◽  
Darya Osipova ◽  
Tatyana Nagornova ◽  
...  

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Kan Wu ◽  
Zhumei Li ◽  
Yuhua Zhu ◽  
Xiaocheng Wang ◽  
Guohui Chen ◽  
...  

Abstract Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and flattened vertebral bodies. COL2A1 has been confirmed as the pathogenic gene. Hearing loss represents an infrequent manifestation for 25–30% of patients with SEDC. The characteristics of the hearing impairment were rarely documented. Methods Audiological, ophthalmic, imaging examinations were conducted on the family members. The whole exome sequencing (WES) was performed to detect the candidate gene, and the Sanger sequencing was used to confirm the causative variation. Results COL2A1 c.1510G>A (p.G504S), a hot spot variation, was identified as the disease-causing mutation of the Chinese Li nationality family with SEDC. This variation was co-segregated with the SEDC phenotype in the family and was absent in the 1000 Genomes Project, ESP and ExAC. Clinically, several manifestations were first demonstrated in SEDC patients caused by p.G504S, including sensorineural hearing loss, auditory ossicles deformity, retinal detachment, sacrum cracked and elbow and wrist joints deformity. Other classical SEDC manifestations such as bones and joints pain, midfacial dysplasia, disproportionate short stature, spinal deformity, thoracocyllosis, coxa arthropathy, myopia and waddling gait were also showed in the family patients. Conclusion We first identified the mutation p.G504S in COL2A1 gene as the pathogenesis in a Chinese Li nationality family and reported the correlation between p.G504S and atypical clinical phenotypes including sensorineural hearing loss, auditory ossicles deformity, retinal detachment, sacrum cracked and elbow and wrist joints deformity. Our findings would extend the phenotypic spectrum of SEDC and deepen clinicians' understanding of genotype–phenotype correlation of the disease.


2021 ◽  
Author(s):  
Lihong Fan ◽  
Yuqing Xu ◽  
Guosong Shen ◽  
Xueping Shen ◽  
Kefeng Tang ◽  
...  

Abstract Aim: To identify the gene mutation and complete prenatal counseling in a Chinese family with spondyloepiphyseal dysplasia congenital (SEDC). Materials and Methods: A Chinese family with SEDC was enrolled. Their detailed clinical features, skeletal radiographic features, and laboratory results were obtained. The peripheral blood samples of the family members were used for the targeted next-generation sequencing (NGS), and Sanger sequencing confirmation. Bioinformatics analysis and genotype-phenotype correlation analysis were used to identify the gene mutation. Amniocentesis, fetal chromosome analysis and Sanger sequencing were completed for prenatal diagnosis. Results: A missense mutation c.3392G>T (p. Gly1131Val) of COL2A1 was found in the proband and the fetus. The mutation was confirmed to be likely pathogenic and would damage the structure of stable triple-helical type II collagen. Conclusion: A novel pathogenic c.3392G>T (p. Gly1131Val) mutation in COL2A1 leading to SEDC was identified, which expanded the genotypic spectrum and phenotypic spectrum of SEDC. In addition, we wish to emphasize that prenatal diagnosis and genetic counseling should be carried out in a family with SEDC for better procreative management.


Medicine ◽  
2021 ◽  
Vol 100 (11) ◽  
pp. e25169
Author(s):  
Li Zhang ◽  
Jinling Wang ◽  
Guanping Dong ◽  
Dingwen Wu ◽  
Wei Wu

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
C Prabaharan ◽  
J K Giriraj Harshavardhan ◽  
P Gopinath Menon

Introduction: Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is a rare inherited dysfunction with autosomal recessive inheritance. SEDT-PA is also named as progressive pseudorheumatoid arthropathy of childhood as it is associated with multiple joint contractures and arthritis. We report a case of SEDT-PA managed with bilateral stage total hip arthroplasty. Case Report: A 22-year-old lady presented with severe bilateral hip arthritis. Based on her clinical and radiological features described in this article, she was diagnosed as having SEDT-PA. She was managed with bilateral stage total hip arthroplasty. The pre-operative planning and technical challenges of performing this procedure have been described. Conclusion: Dysfunctions originally of genetic origin like spondyloepiphyseal dysplasia tarda mimics and is commonly misdiagnosed as juvenile chronic arthritis. These patients have disabling early-onset hip arthritis which requires surgery. Arthroplasty is challenging in these patients because of the low proximal femur offset but good results can be obtained after thorough pre-operative planning to tackle intraoperative difficulties. Keywords: Spondyloepiphyseal dysplasia, Early-onset hip osteoarthritis, Bilateral total hip arthroplasty.


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