Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
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DOI：
10.1002/humu.22020
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发表时间：
2012-03-01
期刊：
影响因子：
3.9
通讯作者：
Heidet, Laurence
中科院分区：
文献类型：
--
作者：
Bower, Matthew;Salomon, Remi;Heidet, Laurence
肾缺损综合征，又称乳头肾综合征，是一种常染色体显性遗传病，以眼部和肾脏畸形为特征。配对盒基因PAX2的突变在大约一半的典型肾发育不良/发育不良和视神经异常的患者中被发现。在2011年前，没有积极维护的特定基因座数据库(LSDB)来编目PAX2基因的遗传变异程度和肾脏缺陷症患者的表型变异。对已发表的病例和美国、法国和新西兰的三个实验室的集体诊断经验的审查发现，86个家庭的173个人中有55个独特的突变。参与这项合作的三个临床实验室在33个家系的68个个体中产生了28个新的变异，这意味着医学文献中发表的变异、患者和家系的数量增加了50%。LSDB是使用莱顿开放变异数据库平台创建的：www.lovd.nl/PAX2。本系列报道的最常见的发现是肾脏结构或功能异常(92%的人)、眼科异常(77%的人)和听力损失(7%的人)。其他临床发现和遗传咨询的含义也进行了讨论。哼唱，2012年33：457466。(C)2011年威利期刊公司。
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal-dominant disorder characterized by ocular and renal malformations. Mutations in the paired-box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus-specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed. Hum Mutat 33:457466, 2012. (C) 2011 Wiley Periodicals, Inc.