FIGURES AND TABLES

Figure 1.

An algorithm for the diagnosis of SMS is shown. ^*Possible other diagnoses include 9q34 deletion syndrome, Prader–Willi syndrome, 22q11.2 deletion syndrome, Williams syndrome, and/or Sotos syndrome. Please refer to Table 1 also.

Figure 2.

Age progression of female subjects with SMS. Typical SMS infant phenotype with 'tented' upper lip and depressed nasal bridge at birth (a), at age 4 months (b), and with hand-clasping behavior at age 1 year (c) is shown. A white patch on the dorsum of left forearm due to skin picking is illustrated in a toddler (also hand clasping) at age 2 years (d). The same individual at ages 13 years (e) and 20 years (f), and photos at 21 years of age illustrating open wounds and scarring on forearms from skin picking (g), brachydactyly and nail-yanking lesions on hands (h), and feet with brachydactyly and nails damaged from nail yanking (i).

Figure 3.

Map of the SMS region. A schematic showing the SMS region with representative genes and proximal, middle, and distal repeats. The different-sized 17p11.2 deletions identified in SMS cases including common, large, small, and atypical deletions are shown. Commercially available FISH probes useful for SMS diagnosis are also represented. Map not drawn to scale.

Figure 4.

Diagram of RAI1. The top panel shows genomic structure of RAI1 (isoform A) with six exons. All RAI1 mutations reported so far localize to exon 3, which comprises >95% of the coding sequence. Two other RAI1 isoforms (B and C) are known but not well characterized. The bottom panel illustrates the protein structure of RAI1, including the polyglutamine (Poly-Q) and polyserine (Poly-S) tracts, the bipartite nuclear localization signals (NLS), and the C-terminal PHD (plant homeodomain).

Table 1 - Summary of SMS clinical features.

Table 2 - Differential diagnosis of Smith–Magenis syndrome.

Table 3 - Genes and disorders associated with 17p11.2p12^a .