X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3
X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3
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DOI：
10.1038/sj.ejhg.5200526
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发表时间：
2000-09-01
影响因子：
5.2
通讯作者：
Bouvagnet, A
中科院分区：
文献类型：
--
作者：
Mégarbané, A;Salem, N;Bouvagnet, A
我们报告一个黎巴嫩家庭，其中两个堂兄弟遭受和死亡的心脏畸形在生命的早期。两人都患有与一种或多种其他心脏缺陷相关的大动脉错位。还观察到各种轻微的中线缺陷，但除了1例持续性左上级腔静脉外，无位置异常。这2例婴儿的1名母亲叔叔出生时出现紫绀，并在出生后第3天死亡。对ZIC3基因的分析显示，第二个外显子中存在突变，导致蛋白质截短，令人惊讶的是，两个受影响的堂兄弟的另一个舅舅也有突变，但没有临床影响。据我们所知，这是第一例男性X染色体基因突变导致的不完全易位。
We report on a Lebanese family in which two maternal cousins suffered and died very early in life from cardiac malformations. Both presented with a transposition of the great arteries associated with one or several other cardiac defects. Various minor midline defects were also observed, but there were no situs abnormalities other than a persistent left superior vena cava in one, A maternal uncle of these two babies was born cyanotic and died on the third post-natal day. Analysis of the ZIC3 gene, revealed the presence of a mutation in the second exon leading to a truncation of the protein, Surprisingly, another maternal uncle of the two affected cousins also had the mutation but was not clinically affected. To our knowledge, this is the first instance of incomplete penetrance in a male for a mutation in a chromosome X gene.