TY -的A2 -罗伯逊,加文·p·盟——Abu-Duhier Faisel盟——Pooranachandran Vivetha盟——议员安德鲁·j·g . AU -信使,安德鲁·g . AU - Cooper-Knock Johnathan AU - Bakri,优素福盟——希斯,保罗•r . AU - Tazi-Ahnini Rachid PY - 2018 DA - 2018/08/07 TI -全基因组测序的肢皮炎Enteropathica家庭从中东SP - 1284568六世- 2018 AB -我们报告一个家庭从武装力量,沙特阿拉伯,先前筛查肢皮炎Enteropathica (AE),在这两个兄弟姐妹了肢端的皮炎的典型特征和脓疱的喷发,但不同的严重程度。影响我们的家人携带一种罕见的基因变异,p。Gly512Trp SLC39A4基因编码产生一个锌转运体;疾病被认为是由于缺锌。之前类似的突变已报告;但是,变量内严重情况下的p。Gly512Trp变体和AE总让我们假设,额外的基因修饰符可能导致疾病的表型。因此进行全基因组测序在五个家庭成员,为谁材料可用AE寻找额外的修饰词;这包括一个个体与临床诊断AE。我们确认了p。Gly512Trp change in SLC39A4 was the only candidate homozygous change which was sufficiently rare (ExAC allele frequency 1.178e-05) and predicted deleterious (CADD score 35) to be attributable as a fully penetrant cause of AE. To identify other genes which may carry relevant genetic variation, we reviewed the relevant literature and databases including Gene Ontology Consortium, GeneMANIA, GeneCards, and MalaCards to identify zinc transporter genes and possible interacting partners. The affected individual carried variants in RECQL4 and GPAA1 genes with ExAC allele frequency <0.01 and CADD score >10. p.Gly512Trp is highly likely to be the pathogenic variant in this family. This variant was previously detected in a Tunisian proband with perfect genotype-phenotype segregation suggestive of pathogenicity. Further research is required in this area due to small sample size, but attention should be given to RECQL4和 GPAA1理解他们的角色在皮肤疾病。SN - 1687 - 6105 UR - https://doi.org/10.1155/2018/1284568 - 10.1155 / 2018/1284568摩根富林明皮肤学研究和实践PB - Hindawi KW - ER