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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

Figure 2

Copy number analysis of HCCS and neighboring genes by quantitative real-time PCR in patient 6. A. Relative quantification of copy number of HCCS exons 1, 3, 6 and 7 by qPCR on genomic DNA of patient 6 (black bars) and her mother (darkgrey bars) revealed values that are comparable to a haploid sample (lightgrey bars) and a diploid sample (white bars), respectively. White, lightgrey and black bars represent the mean ± SD of two independent experiments, each performed in duplicate. The darkgrey bars represent the mean of one experiment performed in duplicate for each exon. B. Relative quantification of copy number of HCCS surrounding genes in patient 6. qPCR for KAL1 exon 8 and RAB9A exon 3 on genomic DNA of patient 6 (black bars) revealed values that were comparable to a diploid sample (white bars), while those for SHROOM2 exon 6 and TLR7 exon 3 (black bars) were comparable with a haploid sample (lightgrey bars). Each bar represents the mean ± SD of at least two experiments performed in duplicate.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172