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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

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 3

HCCS sequence-level mutations in patients 2 and 3. A. Sequence electropherogram from genomic DNA of patient 2 showing part of HCCS exon 6. Nucleotide triplets and encoded amino acids (one letter code) are indicated above the electropherogram. The red arrow points to the double peak in the electropherogram showing heterozygosity for the nonsense mutation c.589C > T (p.R197*). B. Sequence electropherograms of part of HCCS exon 6 from DNA isolated from leukocytes (top), buccal cells (middle) and the lymphoblastoid cell line (LCL; bottom) of patient 3. Nucleotide triplets and encoded amino acids (one letter code) are shown for the wild-type and mutant allele above the electropherograms. The red arrow points to the first double peak in the electropherogram indicating the start of the frameshift. In LCL-derived DNA only HCCS wild-type sequence was visible in the electropherogram. Patient 3 carries the mosaic frameshift mutation c.[=/524_525delAG] / p.[=/E175Vfs*30] in HCCS.

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