Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
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DOI：
10.1038/ng.653
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发表时间：
2010-10-01
期刊：
影响因子：
30.8
通讯作者：
Robinson, Peter N.
中科院分区：
文献类型：
--
作者：
Krawitz, Peter M.;Schweiger, Michal R.;Robinson, Peter N.
高磷酸盐血症智力低下(HPMR)综合征是一种常染色体隐性智力低下形式，具有明显的面部特征和血清碱性磷酸酶升高。我们对一个非血缘关系的HPMR联盟的三个兄弟姐妹进行了全外显子组测序，并对所有兄弟姐妹中相同的遗传区域进行了计算推断，以建立编码GPI-锚生物合成途径的一个成员的PIGV，因为该基因在HPMR中发生了突变。我们在另外三个家系中发现了PIGV纯合子或复合杂合子突变。
Hyperphosphatasia mental retardation (HPMR) syndrome is an autosomal recessive form of mental retardation with distinct facial features and elevated serum alkaline phosphatase. We performed whole-exome sequencing in three siblings of a nonconsanguineous union with HPMR and performed computational inference of regions identical by descent in all siblings to establish PIGV, encoding a member of the GPI-anchor biosynthesis pathway, as the gene mutated in HPMR. We identified homozygous or compound heterozygous mutations in PIGV in three additional families.