title: 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.affiliation: Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Italy. federicozara@ospedale-gaslini.ge.it
authors.forename: Federico
authors.initials: F
authors.lastname: Zara
authors.forename: Roberta
authors.initials: R
authors.lastname: Biancheri
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Laura
authors.initials: L
authors.lastname: Bordo
authors.forename: Stefania
authors.initials: S
authors.lastname: Assereto
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Gazzerro
authors.forename: Federica
authors.initials: F
authors.lastname: Sotgia
authors.forename: Xiao Bo
authors.initials: XB
authors.lastname: Wang
authors.forename: Stefania
authors.initials: S
authors.lastname: Gianotti
authors.forename: Silvia
authors.initials: S
authors.lastname: Stringara
authors.forename: Marina
authors.initials: M
authors.lastname: Pedemonte
authors.forename: Graziella
authors.initials: G
authors.lastname: Uziel
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
authors.forename: Paolo
authors.initials: P
authors.lastname: Tortori-Donati
authors.forename: Marjo S
authors.initials: MS
authors.lastname: van der Knaap
authors.forename: Michael P
authors.initials: MP
authors.lastname: Lisanti
authors.forename: Carlo
authors.initials: C
authors.lastname: Minetti
mesh_terms: D000818:Animals; D019556:COS Cells; D002386:Cataract / Q000209:etiology / Q000235:genetics*; D002648:Child; D002522:Chlorocebus aethiops; D005808:Genes, Recessive; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D015513:Oncogene Proteins / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D015513:Oncogene Proteins; C412048:HYCC1 protein, human