Novel variants in
            COL2A1
            causing rare spondyloepiphyseal dysplasia congenita

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.

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Lung hypoplasia and severe pulmonary hypertension in an infant with double heterozygosity for spondyloepiphyseal dysplasia congenita and achondroplasia

Clinical Genetics ◽

10.1111/j.1399-0004.1995.tb04051.x ◽

2008 ◽

Vol 48 (1) ◽

pp. 35-40 ◽

Cited By ~ 11

Author(s):

Joëlle Günthard ◽

Christian Fliegel ◽

Helmut Ohnacker ◽

Markus Rutishauser ◽

Erika Bühler

Keyword(s):

Pulmonary Hypertension ◽

Lung Hypoplasia ◽

Severe Pulmonary Hypertension ◽

Spondyloepiphyseal Dysplasia ◽

Spondyloepiphyseal Dysplasia Congenita ◽

Double Heterozygosity

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COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

The Application of Clinical Genetics ◽

10.2147/tacg.s197205 ◽

2019 ◽

Vol Volume 12 ◽

pp. 235-238

Author(s):

Raffaella Nenna ◽

Arianna Turchetti ◽

Gerarda Mastrogiorgio ◽

Fabio Midulla

Keyword(s):

Gene Mutations ◽

Spondyloepiphyseal Dysplasia ◽

Spondyloepiphyseal Dysplasia Congenita ◽

Em Gene

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Dwarfism: New Interest Area for Adapted Physical Activity

Adapted Physical Activity Quarterly ◽

10.1123/apaq.13.1.1 ◽

1996 ◽

Vol 13 (1) ◽

pp. 1-15 ◽

Cited By ~ 1

Author(s):

Leslie J. Low ◽

Mary J. Knudsen ◽

Claudine Sherrill

Keyword(s):

Physical Activity ◽

Physical Education ◽

Physical Activities ◽

Adapted Physical Activity ◽

Diastrophic Dysplasia ◽

Spondyloepiphyseal Dysplasia ◽

Cartilage Hair Hypoplasia ◽

Spondyloepiphyseal Dysplasia Congenita ◽

Spondyloepiphyseal Dysplasia Tarda ◽

Number Of Individuals

In recent years, the number of individuals with dwarfism participating in sports and physical activities has increased. The Dwarf Athletic Association of America (DAAA) has grown from 30 athletes in 1985 to over 600 in 1994. This paper details the structural, intellectual, motor, orthopedic, and medical characteristics of six types of dwarfism (achondroplasia, hypochon-droplasia, cartilage-hair hypoplasia, diastrophic dysplasia, spondyloepiphyseal dysplasia tarda, and spondyloepiphyseal dysplasia congenita) seen in individuals currently participating in eight DAAA-sanctioned sports. Implications and modifications for participation in physical activity, physical education, and sport are included.

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