FIGURE

Figure 2

ID

ZDB-FIG-210512-49

Publication

Sofou et al., 2021 - Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease

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Figure 2

Family pedigrees and mutation analysis

A, B

Pedigrees of the two families, indicating autosomal recessive inheritance. The genotype of the VPS16 c.2272‐18 position is indicated.?, not available for testing. (A) Family of patient A. The three sisters are healthy, but an older brother had previously died at 11 months from suspected heart failure after showing signs of developmental delay from an age of 3 months of age. (B) Family of patient B. The mother previously had two spontaneous miscarriages but the two sisters are healthy.

Position of the intronic c.2272‐18 variant in the VPS16 gene.

cDNA analysis by Sanger sequencing of leukocyte RNA from patient A and a control sample. Reads beyond the alternatively spliced breakpoint yield double reads in patient samples, corresponding to the predicted mis‐splicing and wild‐type sequences.

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 @ EMBO Mol. Med.