Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
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.
Zara
Federico
F
Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Italy. federicozara@ospedale-gaslini.ge.it
Biancheri
Roberta
R
Bruno
Claudio
C
Bordo
Laura
L
Assereto
Stefania
S
Gazzerro
Elisabetta
E
Sotgia
Federica
F
Wang
Xiao Bo
XB
Gianotti
Stefania
S
Stringara
Silvia
S
Pedemonte
Marina
M
Uziel
Graziella
G
Rossi
Andrea
A
Schenone
Angelo
A
Tortori-Donati
Paolo
P
van der Knaap
Marjo S
MS
Lisanti
Michael P
MP
Minetti
Carlo
C
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
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D015513:Oncogene Proteins; C412048:HYCC1 protein, human