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. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A van der Zwaag, Emilia K Bijlsma, Bryan L Krock, E Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot RF Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J Lunsing, Lydie Burglen, Gaetan Lesca, Megan T Cho, Lacey A Smith, Beth R Sheidley, Christelle Moufawad El Achkar, Phillip L Pearl, Annapurna Poduri, Cara M Skraban, Jennifer Tarpinian, Addie I Nesbitt, Dietje E Fransen van de Putte, Claudia AL Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A Sweetser, Jessica L Waxler, Klaas J Wierenga; DDD Study, Jean Donadieu, Vinodh Narayanan, Keri M Ramsey; C4RCD Research Group, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H Lelieveld, Janneke Schuurs-Hoeijmakers, Han G Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet ∗
PMCID: PMC6174321  PMID: 30290155

(The American Journal of Human Genetics 102, 995–1007; May 3, 2018)

In the version of this paper published online on April 12, 2018, two sentences require modification. On page 998, the original text read, “...we ascertained 12 additional individuals harboring the same de novo heterozygous missense variant, GenBank: NM_018026.2; c.607C>T (p.Glu209Lys) (Figure 1).” This sentence has been corrected to read: “...we ascertained 12 additional individuals harboring the same de novo heterozygous missense variant, c.625G>A (p.Glu209Lys) (GenBank: NM_001100913.2) (Figure 1).” The new sentence has a corrected RefSeq accession number and cDNA change.

Also on page 998, the original text read, “This recurrence strongly supported the implication of the PACS2 c.607C>T (p.Glu209Lys) missense variant in human disease...” The sentence has been corrected to read: “This recurrence strongly supported the implication of the PACS2 c.625G>A (p.Glu209Lys) missense variant in human disease...” As in the first sentence, the cDNA description of the variant has been corrected.

The authors thank OMIM for pointing out these errors.

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

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