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Brief Communication

Nature Genetics 38, 1111–1113 (1 October 2006) | doi:10.1038/ng1870

Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract

Federico Zara , Roberta Biancheri , Claudio Bruno , Laura Bordo , Stefania Assereto , Elisabetta Gazzerro , Federica Sotgia , Xiao Bo Wang , Stefania Gianotti , Silvia Stringara , Marina Pedemonte , Graziella Uziel , Andrea Rossi , Angelo Schenone , Paolo Tortori-Donati , Marjo S van der Knaap , Michael P Lisanti & Carlo Minetti

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.