Author Contributions:
Barry Moore, MS – coordinated WGS, led alignment and variant calling
steps and performed genomic analysis to identify candidate variants for
patient 1.
Mark Yandell, PhD critically reviewed the manuscript.
Nicola Longo, MD PhD, and Ashley Andrews, NP – identified patient 1,
performed NCG testing, arranged for genetic testing, collected clinical
history, wrote it, and critically revised the manuscript.
Dariusz Rokicki, MD – identified patient 3, performed NCG testing,
arranged for genetic testing, collected and wrote clinical history, and
critically revised the manuscript.
Estela Rubio, MD – identified patient 2, performed NCG testing,
arranged for genetic testing, collected and wrote clinical history, and
critically revised the manuscript.
Véronique Rüfenacht – NAGS gene sequencing.
Nantaporn Haskins – prepared reporter gene constructs and carried out
functional testing of the sequence variant.
Mendel Tuchman, MD – critically revised the manuscript.
Johannes Häberle, MD – wrote the manuscript and supervised NAGSgene sequencing.
Nicholas AhMew, MD – critically revised the manuscript.
Ljubica Caldovic, PhD – performed bioinformatic analysis of NAGSregulatory regions, wrote the manuscript and supervised functional
testing.