Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome
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DOI：
10.1038/ng1517
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发表时间：
2005-03-01
期刊：
影响因子：
30.8
通讯作者：
Maher, ER
中科院分区：
文献类型：
--
作者：
Aligianis, IA;Johnson, CA;Maher, ER
瓦尔堡微综合征（WARBM 1）是一种严重的常染色体隐性遗传疾病，其特征是眼和中枢神经系统发育异常以及小生殖器。我们在12个Micro综合征家族中鉴定了编码RAB 3 GT3激活蛋白的RAB 3GAP的纯合失活突变，该蛋白是涉及神经递质和激素的胞吐释放的Rab3通路的关键调节因子。我们推测Micro综合征的潜在发病机制是眼和神经发育营养因子的细胞外释放失败。
Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. We identified homozygous inactivating mutations in RAB3GAP, encoding RAB3 GTPase activating protein, a key regulator of the Rab3 pathway implicated in exocytic release of neurotransmitters and hormones, in 12 families with Micro syndrome. We hypothesize that the underlying pathogenesis of Micro syndrome is a failure of exocytic release of ocular and neurodevelopmental trophic factors.