FIGURE

Fig. 3

ID

ZDB-FIG-210916-14

Publication

Jones et al., 2021 - A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

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Fig. 3

CRVEEH66 127 kb Xq24 deletion variant validation.

A Agarose gel electrophoresis results of representative samples for PCR products: deletion, left breakpoint, and right breakpoint. Heterozygous female obligate carrier and hemizygous affected male both possess the deletion amplicon. Unaffected female and male samples display wild-type results, with amplicons for breakpoints only. M; 100 bp ladder, C; PCR no template control. B Diagrammatic representation of the 127 kb deletion, indicated by the hatched region. Sequencing chromatograms at the critical breakpoints show consensus with the related halves of the deletion sequence. Deletion PCR fragment displayed from sequencing with the reverse primer. C UCSC genome browser displays the whole-genome sequence coverage from III:12 in dark red compared to an unrelated control sample in blue focused on the region surrounding the PGRMC1 gene. The coverage peaks within the deletion region (as indicated by the marked drop in coverage) in individual III:12 correspond with repeat regions in the genome (data not shown) and likely represent spurious mapping.

Expression Data

Expression Detail

Antibody Labeling

Phenotype Data

Phenotype Detail

Acknowledgments

This image is the copyrighted work of the attributed author or publisher, and ZFIN has permission only to display this image to its users. Additional permissions should be obtained from the applicable author or publisher of the image. Full text @ Eur. J. Hum. Genet.