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- Title
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
- Authors
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
- Abstract
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.
- Publication
Nature genetics, 2006, Vol 38, Issue 10, p1111
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng1870