新发现的膜蛋白hyccin缺乏会导致髓鞘形成减少和先天性白内障。
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
作者信息
Zara Federico, Biancheri Roberta, Bruno Claudio, Bordo Laura, Assereto Stefania, Gazzerro Elisabetta, Sotgia Federica, Wang Xiao Bo, Gianotti Stefania, Stringara Silvia, Pedemonte Marina, Uziel Graziella, Rossi Andrea, Schenone Angelo, Tortori-Donati Paolo, van der Knaap Marjo S, Lisanti Michael P, Minetti Carlo
机构信息
Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Italy.
出版信息
Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3.
We describe a new autosomal recessive white matter disorder ('hypomyelination and congenital cataract') characterized by hypomyelination of the central and peripheral nervous system, progressive neurological impairment and congenital cataract. We identified mutations in five affected families, resulting in a deficiency of hyccin, a newly identified 521-amino acid membrane protein. Our study highlights the essential role of hyccin in central and peripheral myelination.
我们描述了一种新的常染色体隐性白质疾病（“髓鞘形成不足与先天性白内障”），其特征为中枢和外周神经系统髓鞘形成不足、进行性神经功能损害以及先天性白内障。我们在五个患病家庭中鉴定出了突变，这些突变导致一种新发现的521个氨基酸的膜蛋白hyccin缺乏。我们的研究突出了hyccin在中枢和外周髓鞘形成中的重要作用。
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