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Nat Genet. 2006 Oct;38(10):1111-3. Epub 2006 Sep 3.

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

Author information

  • 1Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Italy. federicozara@ospedale-gaslini.ge.it

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.

PMID:
16951682
[PubMed - indexed for MEDLINE]
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