A form of autosomal dominant spondyloepiphyseal dysplasia is caused by a glycine to alanine substitution in the COL2A1 gene

2006 ◽  
Vol 15 (4) ◽  
pp. 197-202 ◽  
Author(s):  
Gabrielle S. Sellick ◽  
Kristein P. Hoornaert ◽  
Geert R. Mortier ◽  
Catherine King ◽  
Claire L. Dolling ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Col2a1 Gene ◽  
Alanine Substitution ◽  
Spondyloepiphyseal Dysplasia

scholarly journals Identification of an Autosomal Dominant Mutation in the COL2A1 Gene Leading to Spondyloepiphyseal Dysplasia Congenita in a Greek Family

2018 ◽  
Vol 9 (5) ◽  
pp. 241-246 ◽  
Author(s):  
Eirini Dikaiakou ◽  
Elpis A. Vlachopapadopoulou ◽  
Emanouil Manolakos ◽  
Panagiotis Samelis ◽  
Rodanthi Margariti ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

scholarly journals Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 137
Author(s):  
Tatyana Markova ◽  
Vladimir Kenis ◽  
Evgeniy Melchenko ◽  
Darya Osipova ◽  
Tatyana Nagornova ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Normal Growth ◽  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Genetic Characteristics ◽  
Col2a1 Gene ◽  
Skeletal Dysplasias ◽  
Spondyloepiphyseal Dysplasia ◽  
Novel Variants

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.

Type 2 Collagen Group

2012 ◽  
pp. 127-153 ◽  
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
Sheila Unger
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Spondyloepiphyseal Dysplasia ◽  
Collagen Group ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Epiphyseal Dysplasia ◽  
Achondrogenesis Type ◽  
Kniest Dysplasia

Chapter 24 covers disorders of the Type 2 collegen group (achondrogenesis type 2 (MIM100610), hypochondrogenesis (MIM 200610), spondyloepiphyseal dysplasia Torrance type (MIM 151210), spondyloepiphyseal dysplasia congenita (MIM 183900), Kniest dysplasia (MIM 256550), spondyloperipheral dysplasia (MIM 271700), spondyloepiphyseal dysplasia with metatarsal shortening (MIM 609162), autosomal dominant spondyloarthropathy (MIM 604864), vitreoretinopathy with phalangeal epiphyseal dysplasia (MIM 120140.0037), Stickler dysplasia (MIM 108300, 604841)), including major clinical findings, radiographic features, and differential diagnoses.

A first familial G504S mutation of COL2A1 gene results in distinctive spondyloepiphyseal dysplasia congenita

2007 ◽  
Vol 382 (1-2) ◽  
pp. 148-150 ◽  
Author(s):  
Xinyi Xia ◽  
Yingxia Cui ◽  
Yufeng Huang ◽  
Lianjun Pan ◽  
Yongming Wu ◽  
...  
Keyword(s):  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

scholarly journals A Missense Mutation in the Mouse Col2a1 Gene Causes Spondyloepiphyseal Dysplasia Congenita, Hearing Loss, and Retinoschisis

2003 ◽  
Vol 18 (9) ◽  
pp. 1612-1621 ◽  
Author(s):  
Leah Rae Donahue ◽  
BO Chang ◽  
Subburaman Mohan ◽  
Nao Miyakoshi ◽  
Jon E Wergedal ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Missense Mutation ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita

Metatropic Dysplasia and Other TRPV4-Related Skeletal Dysplasias

2018 ◽  
pp. 135-156
Author(s):  
Jürgen W. Spranger ◽  
Paula W. Brill ◽  
Christine Hall ◽  
Gen Nishimura ◽  
Andrea Superti-Furga ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Clinical Findings ◽  
Differential Diagnoses ◽  
Radiographic Features ◽  
Skeletal Dysplasias ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondylometaphyseal Dysplasia ◽  
Metatropic Dysplasia

This chapter discusses metatropic dysplasia and other TRPV4-related skeletal dysplasias, including spondyloepiphyseal dysplasia (Maroteaux type), spondylometaphyseal dysplasia (Kozlowski type), brachyolmia (autosomal dominant), and familial digital arthropathy with brachydactyly. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

scholarly journals Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0127529 ◽  
Author(s):  
Xiangjun Huang ◽  
Xiong Deng ◽  
Hongbo Xu ◽  
Song Wu ◽  
Lamei Yuan ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Chinese Family ◽  
Col2a1 Gene ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita
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