Case 9 carried a 4.7 Mb duplication in 17p12p11.2, which contain the RAI1 gene that encodes the retinoic acid-inducing gene protein 1(RIG-I), and the mutation can cause Potocki-Lupski syndrome (17p11.2 duplication syndrome). The gene discussed is RAI1; the disease is Potocki-Lupski syndrome.