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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Figure 1

PHARC family described herein and conducted genetic investigations. A Pedigree of the family described herein. B Graphical view of the LOD score calculation of genomewide SNP mapping. Regions showing homozygosity by descent were identified on chromosomes 1 and 20 (two regions) and are indicated by arrows. C Schematic representation of the mapped sequencing reads (reverse strand) visualized with the Integrative Genomics Viewer (IGV) for patient II:1. The c.193C > T mutation in exon 2 of ABHD12 was present in all 87 reads covering this region of the gene (arrow). D Sanger sequencing confirmed the homozygous mutation in both patients (upper panel). It was found in heterozygous state in both parents (I:1 and I:2) and in II:2 (lower panel). II:3 was not a carrier.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172