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. 2012 Oct 23;2(10):e179. doi: 10.1038/tp.2012.102

Figure 2.

Figure 2

Identification of variants in PHF8 and HUWE1 in families 8 and 4. (a) Pedigree of family 8 and segregation analysis of the p.Ser969del variant in PHF8. The arrow indicates the index case. (b) Sequence electropherograms showing the presence of the p.Ser969del variant at the hemizygous state in the two affected brothers and at the heterozygous state in their mother. (c) Alignment of the region flanking the variant in orthologous proteins, showing the high conservation of Serine 969. (d) Pedigree of family 4 and haplotypes reconstructed from eight informative single nucleotide polymorphisms (SNPs) adjacent to HUWE1 (genotypes of these SNPs were obtained from Illumina cytoSNP-12 arrays analysis), showing that the same maternal haplotype was transmitted to the affected brothers with and without the p.Val950Asp mutation. The arrow indicates the index case. (e) Sequence electropherograms showing the presence of p.Val950Asp in the index case and its absence in the affected brother and in the mother. These results are consistent with the de novo occurrence of p.Val950Asp in the index case. (f) Alignment of the region flanking the variant in orthologous proteins, showing the high conservation of valine 950.