The markers in the above case were only weakly positive and included RNP antibodies, antiscleroderma-70, and anti-centromere B antibodies, which are consistent with mixed connective tissue disease, scleroderma diffuse type, and scleroderma calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) type. The gene discussed is RNPC3; the disease is Telangiectasia.