Wuyts Wim, Roland Dominique, Lüdecke Hermann-Josef, Wauters Jan, Foulon Martine, Van Hul Wim, Van Maldergem Lionel
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Am J Med Genet. 2002 Dec 15;113(4):326-32. doi: 10.1002/ajmg.10845.
Multiple exostoses represent a genetically heterogeneous disorder that may occur isolated or as part of a complex contiguous gene syndrome such as Langer-Giedion syndrome on chromosome 8 and the proximal 11p deletion syndrome on chromosome 11. Here we describe a boy with multiple exostoses, hypertrichosis, mental retardation, and epilepsy due to a de novo deletion on chromosome 8q24. Molecular analysis revealed that the deletion interval overlaps with the Langer-Giedion syndrome and involves the EXT1 gene and additional genes located distal to EXT1, but probably not encompassing the TRPS1 gene located proximal to EXT1.
多发性外生骨疣是一种基因异质性疾病，可单独出现，或作为复杂的连续性基因综合征的一部分，如8号染色体上的朗格-吉迪恩综合征和11号染色体上的近端11p缺失综合征。在此，我们描述了一名患有多发性外生骨疣、多毛症、智力发育迟缓及癫痫的男孩，其病因是8号染色体q24区域的新发缺失。分子分析显示，该缺失区间与朗格-吉迪恩综合征重叠，涉及EXT1基因及位于EXT1远端的其他基因，但可能不包括位于EXT1近端的TRPS1基因。
