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. 2008 Oct 20;14:1850–1855.

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This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Distribution of variants in HSF4. Mutations reported in this study are highlighted in red; previously reported mutations are highlighted in black. A: HSF4 structure is shown in the diagram with the locations of the mutations labeled. B: Genomic DNA sequence electropherograms of the two new missense mutations are shown. Left panel, sequence electropherograms from an affected patient heterozygous for the c.1078A>G mutation resulting in a p.Gln61>Arg substitution; right panel, sequence electropherograms from an affected patient heterozygous for the c.1243G>A mutation resulting in a p.Arg116>His substitution. C: HSF4 sequence alignment and reported mutations in this study are given and highlighted.