The group identified a maternally inherited missense variant Tyr43Ser in the NAA10 gene, resulting in a severely impaired catalytic activity compared to the Ser37Pro variant, in two affected brothers with intellectual disability, cardiac arrhythmia including long QT, dysmorphic and skeletal features (syndromic ID) (Casey et al., 2015). The gene discussed is NAA10; the disease is chronic obstructive pulmonary disease.