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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

Fig. 2

A DEB family with a possible case of dominant and recessive DEB (compound heterozygosity)-severe. a IV-10 (PT61) had moderate blistering, erosions, scarring, milia, nail dystrophy, and dental enamel defects. V-3 (PT60) had less severe blistering, erosions, scarring, and nail dystrophy; teeth abnormality was either absent or minimal. IV-1 (PT62) had a very severe phenotype, including pseudosyndactyly and malnutrition. b IF mapping showed mild reduction of C7 in both V-3 (PT60) and IV-10 (PT61) compared to their respective healthy controls (× 400 magnification). c TEM of V-3 (PT60) showed absent or poorly formed anchoring fibrils (40,000X magnification). The TEM findings for IV-10 (PT61) were similar. d, e V-3 (PT60) and IV-4 (PT59) shared one heterozygous mutation, c.6182G > A (p.Gly2061Glu), and both were cases of DDEB. IV-10 (PT61) was a case of RDEB with compound heterozygous mutations, c.7265G > A (p.Gly2422Glu) and c.8304 + 5G > A. (Recessive mutations are labeled as dotted half circles/squares; dominant mutations are labeled as full half circles/squares, in respective colors. Asterisks (*) indicate family members were tested for COL7A1 mutations. The phenotype of III-6 was unknown; genomic DNA of IV-1 (PT62) was unavailable for repeat genetic testing in this study.)

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