Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity
Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity
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DOI：
10.1038/sj.jid.5700115
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发表时间：
2006-04-01
影响因子：
6.5
通讯作者：
Uitto, Jouni
中科院分区：
文献类型：
--
作者：
Ringpfeil, Franziska;McGuigan, Kelly;Uitto, Jouni
弹性假黄瘤（PXE）是由ABCC6基因突变引起的。历史上，认为PXE以常染色体显性或常染色体隐性方式遗传。为了确定确切的遗传方式的PXE和解决问题的表型表达的突变载体，我们确定了7个家系与受影响的个人在两个不同的世代和测序的ABCC6的整个编码区的受影响的个人，假定运营商有限的表型和未受影响的家庭成员。在每个明确诊断为PXE的个体中，以及在那些仅具有提示PXE的最小临床体征但具有阳性皮肤活检的个体中，确定了两个等位基因突变。在后一种情况下经常检测到错义突变。总之，PXE是以常染色体隐性方式遗传的，两代人的疾病是由于假显性。
Pseudoxanthoma elasticum (PXE) is caused by mutations in the ABCC6 gene. Historically, PXE has been suggested to be inherited either in an autosomal dominant or autosomal recessive manner. To determine the exact mode of inheritance of PXE and to address the question of phenotypic expression in mutation carriers, we identified seven pedigrees with affected individuals in two different generations and sequenced the entire coding region of ABCC6 in affected individuals, presumed carriers with a limited phenotype and unaffected family members. Two allelic mutations were identified in each individual with unambiguous diagnosis of PXE, as well as in those with only minimal clinical signs suggestive of PXE but with positive skin biopsy. Missense mutations were frequently detected in the latter cases. In conclusion, PXE is inherited in an autosomal recessive manner and presence of disease in two generations is due to pseudodominance.