Although we report the first patient with disruption of MINK1, the gene has already been implicated in a variety of disorders based on cohort studies in humans, in silico models and work on model organisms, including congenital heart disease in humans [20] and skeletal and neuronal phenotypes in mice [21,22], as well as cancer [23,24], platelet formation [25], Alzheimer disease [26,27] and arthritis [28]. The gene discussed is MINK1; the disease is arthritic joint disease.