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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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COS Cells
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Cataract / etiology
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Cataract / genetics*
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Child
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Chlorocebus aethiops
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Genes, Recessive
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Hereditary Central Nervous System Demyelinating Diseases / etiology
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Hereditary Central Nervous System Demyelinating Diseases / genetics*
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Humans
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Infant
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Infant, Newborn
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Intracellular Signaling Peptides and Proteins
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Membrane Proteins / genetics
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Membrane Proteins / metabolism
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Mutation
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Oncogene Proteins / deficiency*
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Oncogene Proteins / genetics*
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Oncogene Proteins / metabolism
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Pedigree
Substances
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FAM126A protein, human
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Intracellular Signaling Peptides and Proteins
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Membrane Proteins
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Oncogene Proteins