SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations.
Department of Neurology and Geriatrics, Kagoshima University School of Medicine, Kagoshima city, Kagoshima, Japan.
R
R
Hirano
H
H
Takashima
F
F
Umehara
H
H
Arimura
K
K
Michizono
Y
Y
Okamoto
M
M
Nakagawa
C F
CF
Boerkoel
J R
JR
Lupski
M
M
Osame
K
K
Arimura
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000150:complications / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D005808:Genes, Recessive; D018740:Genetic Heterogeneity; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D017027:Protein Tyrosine Phosphatases / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D054558:Protein Tyrosine Phosphatases, Non-Receptor; D012323:RNA Processing, Post-Transcriptional; D012333:RNA, Messenger / Q000378:metabolism
D018389:Codon, Nonsense; D012333:RNA, Messenger; D017027:Protein Tyrosine Phosphatases; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C475072:SBF2 protein, human