In 2017, we reported a novel form of isolated COX deficiency caused by a K101N variant of the COX4I1 gene encoding COX4-1 in a patient presenting with Fanconi anemia-like features, short stature and mild dysmorphism, while all the known Fanconi anemia (FA) gene sequences were intact. This evidence concerns the gene COX4I1 and Fanconi anemia.