Nature Genetics
- 38, 1111 - 1113 (2006)
Published online: 3 September 2006; | doi:10.1038/ng1870
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataractFederico Zara1, Roberta Biancheri1, Claudio Bruno1, Laura Bordo1, Stefania Assereto1, Elisabetta Gazzerro1, Federica Sotgia1, 2, Xiao Bo Wang2, Stefania Gianotti1, Silvia Stringara1, Marina Pedemonte1, Graziella Uziel3, Andrea Rossi4, Angelo Schenone5, Paolo Tortori-Donati4, Marjo S van der Knaap6, Michael P Lisanti1, 2 & Carlo Minetti11
Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Italy. 2
Department of Cancer Biology and Department of Biochemistry and Molecular Biology, Thomas Jefferson University, Kimmel Cancer Center, Philadelphia, Pennsylvania, USA. 3
Division of Child Neuropsychiatry, C. Besta Institute, Milan, Italy. 4
Department of Pediatric Neuroradiology, G. Gaslini Institute, Genova, Italy. 5
Department of Neurosciences, Ophthalmology and Genetics, University of Genova, Genova, Italy. 6
Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.
Correspondence should be addressed to Federico Zara federicozara@ospedale-gaslini.ge.it or Carlo Minetti minettic@unige.it 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
