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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy

Fig. 1

a MAGEL2 variants and protein domain structures. Truncating MAGEL2 variants found in our cohort and previously reported in literature (RefSeq NM_019066.4). The six variants identified in our patients with Sanger sequencing confirmation are shown above the gene. The proline-rich region (Proline Rich; residues 13–700), USP7 binding site (U7BS; residues 949–1004), and MAGE homology domain (MAGE; residues 1020–1219) are indicated by their positions in the coding sequence. b Pedigree of a familial case and phasing of the MAGEL2 variant. The c.1762C > T variant identified in patients 5 and 6, who were siblings, was found to be inherited from the unaffected father and unaffected paternal grandmother. Sanger sequencing following SmaI digestion detected only the methylated allele (maternal allele). Red arrows indicate the MAGEL2 c.1762C > T variant site. Black arrows indicate the variant site after SmaI digestion

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