Type 4B SBF2 Mutations Research Update

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Research Abstract from Neurology. 2004 Aug 10;63(3):577-580.

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 M, Arimura K.

Department of Neurology and Geriatrics, Kagoshima University School of

Medicine, 8-35-1 Sakuragaoka, Kagoshima city, Kagoshima, 890-8520 Japan.

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.