Skip to main content
Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

Figure 2

Reverse transcription PCR confirmation of USH2A exon deletions and USH2A : c.7595-2144A>G. A. Reverse Transcription PCR (RT-PCR) of USH2A exons 21–26 using RNA extracted from nasal epithelial cells as template. The proband from family 151 carries a deletion of USH2A exons 22–23 in trans with USH2A: p.(Gln1063Serfs*15). In this individual RT-PCR produced a shorter product of 514bp corresponding to a 258bp deletion of USH2A exons 22–23. The other allele in the person amplifies faintly. Amplification on control template produced a band of 772bp, corresponding to wild type. B. Reverse Transcription PCR (RT-PCR) of USH2A exons 40–41 using RNA extracted from fibroblasts as template. The proband and father in family 24, and the proband in family 128 all carry USH2A: c.7595-2144A>G. This variant is in USH2A intron 40, and has been previously reported to lead to the inclusion of a 152bp pseudoexon between exon 40–41 resulting in the pathogenic frameshift p.(Lys2532Thrfs*56). The proband in family 24 also carries this variant in trans with USH2A: p.(Glu767Serfs*21). The other disease-causing allele in family 128 could not be identified.

Back to article page

Orphanet Journal of Rare Diseases

ISSN: 1750-1172