Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy

(The American Journal of Human Genetics 108, 739–748; April 1, 2021) In the originally published version of this article, family 2 was assigned an incorrect aa substitution as a result of the G>A transition in codon 478 of the NCDN gene. The aa substitution in individual F2: II.1 should read p.Arg478Gln, not p.Arg478Glu. The error appeared consistently throughout the text, in Table 1, and in Figures 1, 2, and 3; the error has been corrected online and Figures 1, 2, and 3 appear correctly here as well. The authors regret this error.Figure 1. Segregation of rare NCDN missense variants in families with neurodevelopmental phenotypes (original)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 2. Missense variants in NCDN alter length and number of neurites in SH-SY5Y cells (corrected)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 2. Missense variants in NCDN alter length and number of neurites in SH-SY5Y cells (original)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 3. NCDN variants interfere with mGluR5 signaling and alter electrophysiological properties of SH-SY5Y cells (corrected)View Large Image Figure ViewerDownload Hi-res image Download (PPT)Figure 3. NCDN variants interfere with mGluR5 signaling and alter electrophysiological properties of SH-SY5Y cells (original)View Large Image Figure ViewerDownload Hi-res image Download (PPT) Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsyFatima et al.The American Journal of Human GeneticsMarch 11, 2021In BriefNeurochondrin (NCDN) is a cytoplasmatic neural protein of importance for neural growth, glutamate receptor (mGluR) signaling, and synaptic plasticity. Conditional loss of Ncdn in mice neural tissue causes depressive-like behaviors, impaired spatial learning, and epileptic seizures. We report on NCDN missense variants in six affected individuals with variable degrees of developmental delay, intellectual disability (ID), and seizures. Three siblings were found homozygous for a NCDN missense variant, whereas another three unrelated individuals carried different de novo missense variants in NCDN. Full-Text PDF Open Access