Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
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DOI：
10.1038/ng2063
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发表时间：
2007-08-01
期刊：
影响因子：
30.8
通讯作者：
Pober, Barbara R.
中科院分区：
文献类型：
--
作者：
Kantarci, Sibel;Al-Gazali, Lihadh;Pober, Barbara R.
donai - barrow综合征与胼胝体发育不全、先天性膈疝、面部畸形、眼部异常、感音神经性听力损失和发育迟缓有关。通过研究多重家族，我们将该疾病定位于染色体2q23.3-31.1，并在6个Donnai-Barrow综合征家族和1个面-眼-声-肾综合征家族中发现了LRP2突变。LRP2编码meggalin，这是一种多配体摄取受体，可调节多种循环化合物的水平。这项工作暗示了一条具有潜在药理治疗靶点的途径。
Donnai-Barrow syndrome is associated with agenesis of the corpus callosum, congenital diaphragmatic hernia, facial dysmorphology, ocular anomalies, sensorineural hearing loss and developmental delay. By studying multiplex families, we mapped this disorder to chromosome 2q23.3-31.1 and identified LRP2 mutations in six families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome. LRP2 encodes megalin, a multiligand uptake receptor that regulates levels of diverse circulating compounds. This work implicates a pathway with potential pharmacological therapeutic targets.