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. Author manuscript; available in PMC: 2017 Jan 11.
Published in final edited form as: Genet Med. 2016 May 19;19(1):45–52. doi: 10.1038/gim.2016.53

Figure 1. Newly identified truncating mutations of MAGEL2 in Schaaf-Yang syndrome.

Figure 1

A, Truncating MAGEL2 mutations reported in this manuscript are indicated by their positions in the coding sequence of the gene. *, 11 individuals with a c.1996dupC mutation; **, two individuals with a c.1996delC mutation. B, Pedigrees of familial cases. Pedigree 1, family of patients 1 and 2; pedigree 2, family of patients 5 and 6; pedigree 3, family of patients 16-18. Blackened squares and circles indicate individuals that are/were clinically affected. Black dots indicate carrier individuals, harboring the familial MAGEL2 mutation on their maternal allele. Maternal alleles are indicated in red, paternal alleles in blue. +, reference sequence for MAGEL2; M, familial MAGEL2 mutation; NT, not tested; P, patient; * obligate carrier.