The first Chinese Pierson syndrome with novel mutations in LAMB2
The first Chinese Pierson syndrome with novel mutations in LAMB2
复制标题
中国首例LAMB2新突变皮尔逊综合征
DOI：
10.1093/ndt/gfp563
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发表时间：
2010-03-01
影响因子：
6.1
通讯作者：
Zhang, Yan
中科院分区：
文献类型：
--
作者：
Zhao, Dan;Ding, Jie;Zhang, Yan
方法.采用PCR直接测序法检测1例3.25岁女孩的LAMB2基因突变。发现了两个新的突变，C757 fsX767和P1413 fsX1451，它们预测了截短的蛋白质，并分别在父亲和母亲来源中得到证实。结论。这是中国首例通过临床表现和LAMB2基因突变确诊的Pierson综合征病例。在不同的伦理学中，表现型可能不同。
Methods. A 3.25-year-old girl presenting with childhood-onset heavy proteinuria, bilateral myosis and nystagmus was detected on mutations of LAMB2 gene by PCR direct sequencing.Results. Two novel mutations were identified, C757fsX767 and P1413fsX1451, which predicted truncated proteins and were confirmed in the paternal and maternal origins, respectively.Conclusions. This is the first Chinese case of Pierson syndrome diagnosed by clinical manifestations and LAMB2 gene mutations. The phenotype may be different in different ethics.