Challenging arterial calcification disease associated with rare NT5E gene mutation

Imaging panel showing wide calcification of the common femoral artery with signs of partial demodulated blood flow on echocolour Doppler scan (A) with distal evidence of poststenotic flow (B); X-ray (C) and CT scan (D) of both legs displaying the typical pattern of massive arterial calcification with several collateral vessels. Table 1 PCR primers used for Sanger sequencing of NT5E gene NT5E-1F 5"-cctagctgctcgcccctactc NT5E-1R 5"-actctgccatccgctgcttttc NT5E-2F 5"-tgtctcatagagcttagtcagttttga NT5E-2R 5"-ataatgccaagctgtgatttagggc NT5E-3F 5"-ttaaggtgtttaacctttgcatgta NT5E-3R 5"-agttacaaaggcaaaagagacacag NT5E-4F 5"-agccatgtatgtacaagggctgac NT5E-4R 5"-ggagcaaaatatccagccatctaa NT5E-5F 5"-ccagaatttagcccagtgtgagat NT5E-5R 5"-tcgcatccttccttcctcttcc NT5E-6F 5"-gatcctaaggaagaagagccaga NT5E-6R 5"-ggcaagaaccataacagaaaagga NT5E-7F 5"-attttctcaagtctattttccttct NT5E-7R 5"-aggaaatgccatgagacttggga NT5E-8F 5"-gaaatctccctttggatctggtg NT5E-8R 5"-cttggcccaattttgttgttctt NT5E-9F 5"-acaaaggactaccttactgttgattga NT5E-9R 5"-agcctgtaaagatggtttttgctg PCR conditions were identical for all amplimers. Mutations in NT5E gene, encoding for the plasma membrane enzyme CD73 which hydrolyses adenosine monophosphate (AMP) to adenosine and inorganic phosphate (Pi), were identified in adults from three different families affected with the disease.1 From this first description, only four other families have been described worldwide.2–5 In vitro assays demonstrated that CD73-deficient fibroblasts reduced extracellular adenosine levels and enhanced the activity of tissue non-specific alkaline phosphatase, which generates procalcifying extracellular Pi.