O'Donnel-Luria-Rodan Syndrome: New gene variant identified in Romania (A case report)

O'Donnel-Luria-Rodan (ODLURO) syndrome is a neurodevelopmental disorder with autosomal dominant inheritance. It appears more frequently in males during the first decade of life and is associated with developmental delay, low intelligence quotient, autism spectrum disorder-like behavior, epilepsy, speech delay, aggression, facial and skeletal deformities, gastrointestinal symptoms and hypotonia. Although few cases have been documented, it appears that the phenotype spectrum may vary, especially between the two biological sexes. The present study reported a case of a 5-year-old male patient who was diagnosed with ODLURO at the age of 4 years using whole-exome sequencing. Molecular analysis identified a new mutation in the lysine methyltransferase 2E (inactive) (KMT2E) gene, which was classified as a variant with unknown significance. The father, who presented with non-specific and undiagnosed psychiatric manifestations, presented the same KMT2E variant. The case described in the present study is not only interesting because there are <40 cases described in the literature, but also because a new inherited mutation in the KMT2E gene, present in both father and son, that resulted in different phenotypic manifestations was identified.