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

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.

• Authors: 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
• Journal: Nature genetics (Nat Genet) Vol. 38 Issue 10 Pg. 1111-3 (Oct 2006) ISSN: 1061-4036 [Print] United States
• PMID: 16951682 (Publication Type: Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't)

Chemical References

• FAM126A protein, human
• Intracellular Signaling Peptides and Proteins
• Membrane Proteins
• Oncogene Proteins

Topics

• Animals
• COS Cells
• Cataract (etiology, genetics)
• Child
• Chlorocebus aethiops
• Genes, Recessive
• Hereditary Central Nervous System Demyelinating Diseases (etiology, genetics)
• Humans
• Infant
• Infant, Newborn
• Intracellular Signaling Peptides and Proteins
• Membrane Proteins (genetics, metabolism)
• Mutation
• Oncogene Proteins (deficiency, genetics, metabolism)
• Pedigree