PMC3721196_01
(A) Filled symbols=affected; empty symbols=unaffected; cross-slashed symbols=deceased; double line=consanguinity. The proband is indicated by the arrow. (B) Radiographs of the hands and ankles. (C-E) Sural nerve biopsy. (C, D) Semi-thin resin sections, stained with MBABF. (C) Seven fascicles with severe depletion of myelinated fibres. Higher magnification (D) shows that both large and small myelinated fibres are affected. There is no inflammation. Electron microscopy (E) shows remaining myelinated fibres, with occasional demyelination (yellow arrow) and occasional bands of Bungner (not shown). Scale bar: (A) 500 mum, (B) 65 mum and (C) 1.1 mum. (F) Chromatograms of FAM134B in affected patient (top) and control (bottom). The homozygous nonsense mutation c.471 C T is outlined.
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F1
Somalian family (figure 1A) and had a normal birth and developmental milestones. Plain radiographs (figure 1B) showed acroosteolysis and resorption of the terminal phalanges of the thumb and fingers, with joint destruction and fixed deformities of the little fingers. Sural nerve biopsy (figure 1C-E) demonstrated a severely reduced density of large myelinated fibres with occasional regenerative clusters. Sequencing the FAM134B gene (primers available on request) revealed a homozygous nonsense mutation p.Q145X (figure 1F).