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. Author manuscript; available in PMC: 2023 Feb 1.
Published in final edited form as: Genet Med. 2021 Nov 30;24(2):319–331. doi: 10.1016/j.gim.2021.09.014

Figure 1. Variants in ADD1 are associated with agenesis of corpus callosum and ventriculomegaly.

Figure 1.

A) Brain MRIs showing that ADD1 variants are associated with agenesis of corpus callosum. Case I-1 carrying the homozygous ADD1 variant Chr4:2877811 A>T (hg19, p.Arg57Trp ) exhibits agenesis of corpus callosum (ACC), a grossly enlarged 3rd ventricle, and hypoplasia of white matter and cerebellar vermis. Case II-1 carrying the de novo truncation variant Chr4:2906748_G>A (p. Trp473*, NM_014189) exhibits partial agenesis of the corpus callosum, with only a segment of the anterior body present; there is also abnormal lobulation and disorganized subluxation and folia of the inferior and lateral aspects of the left cerebellar hemisphere. Case III-1 carrying the de novo truncation variant Chr4:2930065-2930075 delGCCAGCCCCGA, NM_001119, p.Glu680Argfs*7) exhibits complete agenesis of the corpus callosum and enlarged ventricles.

B) ADD1 exon-intron structure and the positions of variants reported in this study.

See also Figure S1.