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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2022 Mar 3;109(3):542–546. doi: 10.1016/j.ajhg.2022.02.007

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

Ambrin Fatima, Jan Hoeber, Jens Schuster, Eriko Koshimizu, Carolina Maya-Gonzalez, Boris Keren, Cyril Mignot, Talia Akram, Zafar Ali, Satoko Miyatake, Junpei Tanigawa, Takayoshi Koike, Mitsuhiro Kato, Yoshiko Murakami, Uzma Abdullah, Muhammad Akhtar Ali, Rein Fadoul, Loora Laan, Casimiro Castillejo-López, Maarika Liik, Zhe Jin, Bryndis Birnir, Naomichi Matsumoto, Shahid M Baig, Joakim Klar, Niklas Dahl
PMCID: PMC8948155  PMID: 35245475

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(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.

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Figure 1. Segregation of rare NCDN missense variants in families with neurodevelopmental phenotypes (corrected)

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Figure 1. Segregation of rare NCDN missense variants in families with neurodevelopmental phenotypes (original)

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Figure 2. Missense variants in NCDN alter length and number of neurites in SH-SY5Y cells (corrected)

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Figure 2. Missense variants in NCDN alter length and number of neurites in SH-SY5Y cells (original)

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Figure 3. NCDN variants interfere with mGluR5 signaling and alter electrophysiological properties of SH-SY5Y cells (corrected)

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Figure 3. NCDN variants interfere with mGluR5 signaling and alter electrophysiological properties of SH-SY5Y cells (original)


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