Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
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DOI：
10.1136/jmg.35.4.273
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发表时间：
1998-04-01
影响因子：
4
通讯作者：
Pober, BR
中科院分区：
文献类型：
--
作者：
Jonsson, JJ;Renieri, A;Pober, BR
我们描述了一个有四口人的家庭，一个母亲，两个儿子和一个女儿，他们表现出与X连锁阿尔波特综合征一致的临床特征。这两名男性患者还表现出智力低下、畸形相、明显的中脸发育不全和椭圆形细胞增多等其他特征。椭圆细胞增多症与任何可检测到的红细胞膜蛋白异常无关；红细胞光度计检查红细胞稳定性和硬度正常。分子特征表明亚显微镜下的X染色体缺失包括整个COL4A5基因。我们提出，在该家族的受影响男性中发现的额外异常可归因于COL4A5基因附近X连锁隐性基因的缺失或破坏，并且这些发现可能代表了一种新的X连锁连续基因缺失综合征。
We describe a family with four members, a mother, two sons, and a daughter, who show clinical features consistent with X linked Alport syndrome. The two males presented with additional features including mental retardation, dysmorphic facies with marked midface hypoplasia, and elliptocytosis. The elliptocytosis was not associated with any detectable abnormalities in red cell membrane proteins; red cell membrane stability and rigidity was normal on ektacytometry.Molecular characterisation suggests a submicroscopic X chromosome deletion encompassing the entire COL4A5 gene. We propose that the additional abnormalities found in the affected males of this family are attributable to deletion or disruption of X linked recessive genes adjacent to the COL4A5 gene and that this constellation of findings may represent a new X linked contiguous gene deletion syndrome.