McKenzie L, Sillence D
Medical Genetics and Dysmorphology Unit, Children's Hospital, Camperdown, Sydney, NSW 2050, Australia.
J Med Genet. 1992 Jan;29(1):41-5. doi: 10.1136/jmg.29.1.41.
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.
休曼氏青少年驼背症或休曼氏病是青少年驼背最常见的病因。然而，其自然病史和遗传基础仍不清楚。单卵双胞胎出现相同放射学改变、同胞复发以及三代遗传的报道提示存在遗传易感性。在本研究中，12名先证者被转诊至我们处。在先证者的父母及同胞接受放射学检查后，发现7例患有家族性休曼氏病，呈常染色体显性遗传模式。其余5名先证者中，4例存在染色体异常。对三个最大的家系采用三个候选基因（达菲、Ⅰ型胶原α1链基因和Ⅰ型胶原α2链基因）进行连锁分析。在这些家系中，休曼氏病与达菲基因（在θ=0.10时，连锁值=-2.195）及Ⅰ型胶原α2链基因（在θ=0.05时，连锁值=-2.750）排除连锁关系。
