Ahn J, Lüdecke H J, Lindow S, Horton W A, Lee B, Wagner M J, Horsthemke B, Wells D E
Department of Biology, University of Houston, Texas 77204-5513, USA.
Nat Genet. 1995 Oct;11(2):137-43. doi: 10.1038/ng1095-137.
Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone tumours. In a majority of families, the genetic defect (EXT1) is linked to the Langer-Giedion syndrome chromosomal region in 8q24.1. From this region we have cloned and characterized a cDNA which spans chromosomal breakpoints previously identified in two multiple exostoses patients. Furthermore, the gene harbours frameshift mutations in affected members of two EXT1 families. The cDNA has a coding region of 2,238 bp with no apparent homology to other known gene sequences and thus its function remains elusive. However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function.
遗传性多发性骨软骨瘤是一种常染色体显性疾病，其特征为身材矮小和多发性良性骨肿瘤。在大多数家族中，基因缺陷（EXT1）与8q24.1的朗格-吉迪恩综合征染色体区域相关。从该区域我们克隆并鉴定了一个cDNA，它跨越了先前在两名多发性骨软骨瘤患者中确定的染色体断点。此外，该基因在两个EXT1家族的患病成员中存在移码突变。该cDNA具有2238 bp的编码区，与其他已知基因序列无明显同源性，因此其功能仍然不明。然而，最近对散发性和骨软骨瘤衍生的软骨肉瘤研究表明，8q24.1编码的EXT1基因可能具有肿瘤抑制功能。
