J Med Genet 29:41-45 doi:10.1136/jmg.29.1.41
  • Research Article

Familial Scheuermann disease: a genetic and linkage study.

  1. L McKenzie,
  2. D Sillence
  1. Medical Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, NSW 2050, Australia.


      Scheuermann juvenile kyphosis or Scheuermann disease is the most frequent cause of kyphosis in adolescence. However, the natural history and genetic basis is still unknown. Reports of identical radiological changes in monozygotic twins, sib recurrence, and transmission over three generations suggest underlying heritability. In this study, 12 probands were referred to us. Upon radiological examination of the proband's parents and sibs, seven were shown to have familial Scheuermann disease with an autosomal dominant pattern of inheritance. Of the remaining five probands, four had chromosomal anomalies. The three largest pedigrees were subjected to linkage analysis with three candidate genes: Duffy, COL1A1, and COL1A2. Linkage of Scheuermann disease was excluded with Duffy (lod score = -2.195 at theta = 0.10) and COL1A2 (lod score = -2.750 at theta = 0.05) in these families.