Zellweger syndrome resulting from maternal isodisomy of chromosome 1
Zellweger syndrome resulting from maternal isodisomy of chromosome 1
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DOI：
10.1002/ajmg.a.31912
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发表时间：
2007-09-15
影响因子：
2
通讯作者：
Temple, I. Karen
中科院分区：
文献类型：
--
作者：
Turner, Claire L. S.;Bunyan, David J.;Temple, I. Karen
Zellweger综合征（ZS）是一种由过氧化物酶体生物发生（PEX）基因突变引起的自染色体隐性过氧化物酶体疾病。这是第一个病人报告的单亲二体性（UPD）导致ZS，在这种情况下，母系isodiomy 1号染色体涉及减少到homoallelism的移码突变内PEX 10，其他报告的情况下，1号染色体上的基因印记的证据，进行审查。该患者的分子研究结果对ZS的分子检测和遗传咨询具有重要意义。(c)2007 Wiley-Liss，Inc.
Zellweger syndrome (ZS) is an autosornal recessive peroxisomal disorder that results from mutations in one of the peroxisome biogenesis (PEX) genes. This is the first patient reported with uniparental disomy (UPD) resulting in ZS, in this case maternal isodisomy of chromosome 1 involving reduction to homoallelism of a frameshift Mutation within PEX 10, Other reported cases of UPD1, and evidence for the imprinting of genes on chromosome 1, are reviewed. The molecular findings in this patient have important implications for molecular testing and genetic counseling in ZS. (c) 2007 Wiley-Liss, Inc.