P698: Identification of a novel de novo AFF4 missense variant in an infant with clinical features resembling CHOPS syndrome

Genetics in Medicine Open 2026 Open access

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Authors: Coumarane Mani, Patti Krautscheid, John O'Shea, Emily Fleming, Vanina Taliercio, David H. Viskochil, Stacey Cole, Rong Mao
DOI: 10.1016/j.gimo.2026.104188
Cited by: 0

Abstract

CHOPS syndrome is frequently misdiagnosed as CdLS due to overlapping phenotypes. Reported CHOPS cases share features such as DD, ID, obesity with food-seeking behavior, dysmorphic facial features (arched eyebrows with synophrys, long eyelashes, upturned nasal tip), congenital heart defects (PDA, VSD, PFO), pulmonary involvement, skeletal anomalies, genital abnormalities, and gastrointestinal defects. Our proband exhibited respiratory failure, pulmonary hypertension, and multiple cardiac anomalies.

Fields of Study & Subjects

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

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104188–104188
Publication date
1 January 2026
Language
EN