SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma.
case_report · Level V
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- Record sourced from PubMed, PMID 15304601.
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Abstract
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.
Medical subject headings
- Charcot-Marie-Tooth Disease
- Codon, Nonsense
- Glaucoma, Open-Angle
- Protein Tyrosine Phosphatases