NR2F2 mutations cause a recognizable multiple congenital anomaly syndrome with developmental delays
A new study published in the European Journal of Human Genetics identified mono-allelic variants (mostly de novo) in NR2F2 (a gene coding for a transcription factor which is expressed at high levels during mammalian development), within 17 unreported individuals who expand the phenotypic spectrum associated with NR2F2 variants. To resume a long list of clinical features, they express highly variable syndrome of congenital anomalies, commonly associated with heart defects, developmental delays/intellectual disability, dysmorphic features, feeding difficulties, hypotonia, and genital anomalies. Molecular analyses show a causal relation with the variants, and the study provide clinical recommendations for evaluating individuals diagnosed with an NR2F2-associated disorder.
- Eur J Hum Genet . 2023 Oct;31(10):1117-1124