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BioMed Research International
Volume 2013 (2013), Article ID 973716, 9 pages
http://dx.doi.org/10.1155/2013/973716
Research Article

The Mode of Inheritance of Scheuermann’s Disease

1Institute of Traumatology and Orthopaedics, Frunze Street 17, Novosibirsk 630091, Russia
2Rambam Health Care Campus, 6 Ha’Aliya Street POB 9602, 31096 Haifa, Israel

Received 29 April 2013; Accepted 25 July 2013

Academic Editor: Panagiotis Korovessis

Copyright © 2013 A. M. Zaidman et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

The mode of Scheuermann’s disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives). The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies’ anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann’s disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene) probably indicates posttranscriptional genetic disorders. The study is under way.