TY - JOUR T1 - 欧洲呼吸杂志JO - - 欧洲呼吸j执行 - 10.1183 / 13993003.00806-2019 VL - 55 - 2 SP - 1900806 AU八个新颖在 SLC34A2 基因在肺泡微JF变体- 琼森，ASA丽娜M. AU - Bendstrup，伊丽莎白AU - 莫根森，苏西AU - Kopras，伊丽莎白J. AU - 麦科马克，弗朗西斯X. AU - 坎普，Ilaria的AU - 马里亚尼，弗朗西斯AU - 埃斯克里瓦诺-蒙塔内尔，安帕罗AU -霍尔姆，都是M. AU - 马丁内斯Colls，玛丽亚del Mar的AU - Pintos - 莫雷尔，纪莲AU - Taillé，卡米尔AU - Crestani，布鲁诺AU - 希尔伯格，奥盟 - Hvarregaard克里斯滕森，简AU - 西蒙森，乌尔夫Y1 - 2020/ 2月1日UR - //www.qdcxjkg.com/content/55/2/1900806.abstract N2 - 背景肺泡微（PAM）通过遗传变异体在SLC34A2基因，其编码所引起的钠依赖性磷酸盐转运蛋白2B（的NaPi-2b）中。PAM的特征在于导致肺功能障碍肺泡磷酸钙结核（石器）的沉积。SLC34A2的变型谱还没有得到很好的调查，现在还不知道的基因型 - 表型相关exists.Methods是否我们收集了DNA来自14例PAM和4位亲人，并通过直接DNA测序分析SLC34A2的编码区。为了确定表型特征，收集临床资料和严重度评分对每个变种创建的基础上，protein.Results我们确定了14例PAM SLC34A2八个新的等位基因变异体中的类型和定位。这四个都是废话变种，三个人都是错义，一个是剪接位点变异体。一名患者为杂两个不同的变体和其他所有患者均为纯合子。 Four patients were asymptomatic and 10 patients were symptomatic. The severity of the disease was associated with the variant severity.Conclusions Our findings support a significant role for SLC34A2 in PAM and expand the variant spectrum of the disease. Thus, SLC34A2 variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.Eight novel variants in the SLC34A2 gene have been identified in 14 patients with pulmonary alveolar microlithiasis (PAM), which emphasises the importance of the gene in the disease. Furthermore, a genotype–phenotype correlation in PAM may exist. http://bit.ly/3307M1p ER -