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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1111-1113
Number of pages3
JournalNature Genetics
Volume38
Issue number10
DOIs
Publication statusPublished - Oct 2006

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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    Zara, F., Biancheri, R., Bruno, C., Bordo, L., Assereto, S., Gazzerro, E., Sotgia, F., Wang, X. B., Gianotti, S., Stringara, S., Pedemonte, M., Uziel, G., Rossi, A., Schenone, A., Tortori-Donati, P., Van Der Knaap, M. S., Lisanti, M. P., & Minetti, C. (2006). Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nature Genetics, 38(10), 1111-1113. https://doi.org/10.1038/ng1870