FIGURE

Fig. 1

ID

ZDB-FIG-220204-16

Publication

Wong et al., 2021 - Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen storage-associated mitochondriopathy

Other Figures

All Figure Page

Back to All Figure Page

Fig. 1

(A) Pedigrees of eight consanguineous families segregating homozygous C2orf69 loss-of-function variants. The identified germline homozygous mutations are shown for 12 affected individuals; eight additional children with similar symptoms died before they could be tested. (B) C2orf69 is intolerant of genetic variation. Minor allele frequency (MAF) and combined annotation-dependent depletion (CADD) score of homozygous C2orf69 coding variants found in gnomAD v.2.1.1 (black dots) and those found in each family (color-coded dots). (C) Photographs and brain MRIs taken at 10 months of age (F1-II:1), 5 months of age (F1-II:2), and 6 months of age (F5-II:1) showing cerebral atrophy with leukoencephalopathy.

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 @ Am. J. Hum. Genet.