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. Author manuscript; available in PMC: 2012 Aug 1.
Published in final edited form as: Am J Med Genet A. 2011 Jul 7;155(8):2024–2027. doi: 10.1002/ajmg.a.34098

Figure 1. Melatonin rhythmicity is altered in RAI1 mutation patients.

Figure 1

Levels of urinary 6-sulfatoxymelatonin (aMT6s), a surrogate for serum melatonin concentration, were determined over one day and normalized to urinary creatinine (Cr). a. In healthy individuals, the highest concentration of aMT6s is found in the first morning sample, reflecting the normal rise of serum melatonin during the night (adapted from [Reiter et al., 1996]). b-c. This rhythmicity is ‘inverted’ in RAI1 mutation patients (b), similar to individuals with the SMS common deletion (c; adapted from [Potocki et al., 2000]). Both children (top) and adult patients (bottom) exhibit this aberrant rhythmicity. The overall magnitude of melatonin concentrations is expectedly higher in children than in adult subjects [Waldhauser et al., 1984]. Shaded areas indicate the period of darkness. RAI1, RAI1 mutation; Del, common SMS deletion.