Fig. 4 | Genetics in Medicine

Fig. 4

From: Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Fig. 4

Contribution of genes/regions on chromosome 17p11.2 toward the variable features in Smith-Magenis syndrome (SMS). The contributory genes/regions (gray phenotypic blocks) were deduced by comparing the deletion breakpoints of common, large, small, and atypical deletions and correlating them with the patient's SMS features (Fig. 1). P values were obtained by comparing the presence or absence of a feature in patients with small deletions and RAI1 mutations (short stature, 7/20; hearing loss, 6/18; and cardiac features, 2/21) with those with common, large, and atypical deletions (short stature, 10/11; hearing loss, 8/10; and cardiac features, 6/11) by using the Fisher exact test. *Significant values were set at P < .05. Information about a known gene from published sources (black bars), including immunoglobulin-A deficiency (TNFRSF13B),31 Birt-Hogg-Dube syndrome (FLCN),28,29 Sjogren-Larsson syndrome (ALDH3A),32 sensorineural hearing loss (MYO15A),34 fatty liver and liver abnormalities (PEMT),33 Charcot-Marie-Tooth disease (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP),35,36 and the core SMS features (RAI1).4,21,41

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