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

  • Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870.
Federico Zara  1 ,  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
Affiliations
  • 1. Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Italy. [email protected]
PMID: 16951682 DOI: 10.1038/ng1870
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.