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COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita

Authors Nenna R, Turchetti A, Mastrogiorgio G, Midulla F

Received 16 August 2019

Accepted for publication 23 November 2019

Published 4 December 2019 Volume 2019:12 Pages 235—238


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Raffaella Nenna,1 Arianna Turchetti,1 Gerarda Mastrogiorgio,2 Fabio Midulla1

1Department of Paediatrics, Sapienza University, Rome, Italy; 2Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, Rome, Italy

Correspondence: Raffaella Nenna
Department of Paediatrics, “Sapienza” University of Rome, V.le Regina Elena 324, Rome 00161, Italy
Tel +390649979363

Abstract: The COL2A1 gene consists of 54 exons spanning over 31.5 kb and encodes for type II collagen. Type II collagen is the main component of hyaline cartilage extracellular matrix, nucleus pulposus of intervertebral discus, vitreous humor of the eye and inner ear structure. Molecular defects in COL2A1 gene cause a wide variety of rare autosomal-dominant conditions known as type II collagenopathies. A clear genotype–phenotype relationship is not yet known. However, some correlations are described. Spondyloephyseal dysplasia congenita was suggested for a short-trunk dwarfing condition affecting primarily the vertebrae and the proximal epiphyses of the long bones.

Keywords: COL2A1 gene, type II collagen, spondyloepiphyseal dysplasia congenita

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