X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male
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DOI：
10.1002/ajmg.a.10852
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发表时间：
2003-01-30
影响因子：
2
通讯作者：
Pauli, RM
中科院分区：
文献类型：
--
作者：
Aughton, DJ;Kelley, RI;Pauli, RM
x连锁显性点状软骨发育不良（CDPX2； apple综合征）几乎只在女性中发现，她们表现出马赛克和不对称特征，被认为是随机x失活的继发。CDPX2是由编码甾醇- δ (8)- δ(7)异构酶（埃莫帕米结合蛋白）的x连锁基因突变引起的。我们描述了一个具有CDPX2临床特征的男孩（包括那些被认为通常继发于女性功能性镶嵌的特征）。生化和分子研究表明，他是一种甾醇- δ (8)- δ(7)异构酶基因突变的嵌合体。他是第一个报道的单基因嵌合现象的例子。在雄性体内产生CDPX2。(C) 2002 Wiley-Liss, Inc。
X-linked dominant chondrodysplasia punctata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display mosaic and asymmetric features, presumed to arise secondary to random X-inactivation. CDPX2 results from mutation of an X-linked gene coding for sterol-Delta(8)-Delta(7) isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to arise usually secondary to functional mosaicism in females). Biochemical and molecular studies demonstrate that he is mosaic for a sterol-Delta(8)-Delta(7) isomerase gene mutation. He is the first reported example of single gene mosaicism. giving rise to CDPX2 in a male. (C) 2002 Wiley-Liss, Inc.