ZFIN Image: Wong et al., 2021, Fig. 1

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Figure Caption

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.

Acknowledgments

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