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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling
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DOI：10.1016/j.gim.2026.102648.png)
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Abstract
En 中文
Heterozygous pathogenic variants in AXIN2 (HGNC 904) cause oligodontia-colorectal cancer syndrome (ODCRCS). We identified five individuals with de novo, heterozygous variants (NM_004655.4:c.196G>A p.(Glu66Lys), c.197A>G p.(Glu66Gly), and c.199G>A p.(Gly67Arg)) in AXIN2. Common phenotypes among these individuals included ectodermal dysplasia, global developmental delay, microcephaly, and limb, ophthalmologic, and genitourinary abnormalities.
Keywords:
ectodermal dysplasia
Wnt/β-catenin signaling
oligodontia-colorectal cancer
AXIN2
tankyrase-binding domain
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