Article
Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2026
Aceves-Ewing Nathalie M, Lanza Denise G, Marcogliese Paul C, Lu Di, Hsu Chih-Wei, Hashimoto Hirokazu, Gonzalez Matthew, Christiansen Audrey E, Rasmussen Tara L, Ho Alex J, Gaspero Angelina, Sha Cher, Dickinson Mary E, Yuan Bo, Shayota Brian J, Pachter Stephanie, Hu Xiaolin, Day-Salvatore Debra Lynn, Mackay Laura, Kanca Oguz, Wangler Michael F, Potocki Lorraine, Rosenfeld Jill A, Lewis Richard Alan, Chao Hsiao-Tuan, Lee Brendan, Blieden Lauren, Wasserman Barry N, Bax Dorine A, Ragge Nicola K, Lee Sukyeong, Yamamoto Shinya, Bellen Hugo J, Burrage Lindsay C, Heaney Jason D
Abstract excerpt
PURPOSE: Heterozygous pathogenic variants in AXIN2 (HGNC: 904) cause oligodontia-colorectal cancer syndrome. We identified 5 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...
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