P310: Variants of uncertain significance in ANKRD17: Challenges and opportunities in clarification in a natural history study

Genetics in Medicine Open 2026 Open access

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Authors: Abigail Sveden, Raymond Belanger Deloge, Muhammed Cagri Bayraktutan, Jada Cameron, Jack Murray, Jason D. Heaney, Lindsay Catherine Burrage, Denise Grant Lanza, Jill A. Rosenfeld, Rosanna Weksberg, Kellen Diamond Winden, Sarah Chamseddine
+2 more Janet S. Chou, Maya Chopra
DOI: 10.1016/j.gimo.2026.103804
Cited by: 0

Abstract

Chopra-Amiel-Gordon Syndrome (CAGS) is a recently described neurodevelopmental syndrome caused by ANKRD17 haploinsufficiency. ANKRD17, a member of the ankyrin family, has functions in cell cycle progression and immunity through the NOD2 pathway. Homozygous knockout mice, lethal by embryonic day 11, demonstrate vascular defects, while heterozygous mice are unaffected, limiting modeling of the syndrome. An ongoing longitudinal natural history study is underway to further define the phenotypic and molecular spectrum of CAGS.

Fields of Study & Subjects

Genetics and Neurodevelopmental Disorders Genomics and Rare Diseases Genomic variations and chromosomal abnormalities

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103804–103804
Publication date
1 January 2026
Language
EN