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Abstract #10672 Published in IGR 6-2
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
Hirano R; Takashima H; Umehara F; Arimura H; Michizono K; Okamoto Y; Nakagawa M; Boerkoel CF; Lupski JR; Osame MNeurology 2004; 63: 577-580
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.
Dr. H. Takashima, Dept. of Neurology and Gediatrics, Kagoshima Univ. School of Medicine, 8-35-1 Sakuragaoka, Kagoshima city, Kagoshima, 890-8520
Classification:
1.2 Population genetics (Part of: 1 General aspects)
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
