Table 4.
Other Actionable Findings in the NC NEXUS NGS-NBS
| NC NEXUS Participant | NGS-NBS Result | Gene | Disease Association with Gene (Inheritance) | Variant and (Predicted Protein Change) | Zygosity in NC NEXUS Participant |
|---|---|---|---|---|---|
| M003 | abnormal | OTC | OTC deficiency (XL) | c.1061T>G (p.Phe354Cys) | heterozygous |
| NB012 | abnormal | LDLR | familial hypercholesterolemia (AD or AR) | c.502G>A (p.Asp168Asn) | heterozygous |
| HL013 | abnormal | F11 | factor XI deficiency (AR) | c.1489C>T (p.Arg497∗), c.1608G>C (p.Lys536Asn) | heterozygous for both variants |
| HL021 | abnormal | DSC2 | arrhythmogenic right ventricular dysplasia (ARVD11) (AD) | c.631−2A>G (p.?) | heterozygous |
The NC NEXUS participant column includes “M” (indicating inborn errors of metabolism cohort), “HL” (indicating hearing loss cohort) or “NB” (indicating well-child cohort) followed by the participant number. Each row in the table represents one NC NEXUS participant. Other actionable findings were defined by pathogenic or likely pathogenic variants found in the NGS-NBS that are associated with a disorder not previously known in the NC NEXUS participant. Gene symbols are italicized. NGS-NBS, next-generation sequencing newborn screen; XL, X-linked inheritance pattern; AR, autosomal-recessive pattern of inheritance; AD, autosomal-dominant pattern of inheritance.