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The hand on the left X-ray is normal. The hand to the right shows shortened single bones in the fingers of a patient with brachydaktyly type E (see arrows). The shortened extremity is due to the translocation of the gene PTHLH from chromosome 12 to chromosome 4 followed by dysregulation of the gene PTHLH. The regulator CISTR-ACT with its long non-coding RNA (lncRNA) was disrupted by the translocation and supported the dysregulation.
(Graphics and X-rays: Philipp Maass/Copyright: ECRC)
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