WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

摘要: Mutations in the WDR45 gene have been identified as causative for only X-linked type of neurodegeneration with brain iron accumulation (NBIA), clinically characterized by global developmental delay childhood, followed a secondary neurological decline parkinsonism and/or dementia adolescence or early adulthood. Recent reports suggest that mutations are associated broader phenotypic spectrum. We novel splice site mutation (c.440-2 A > G) 5-year-old Argentinian patient Rett-like syndrome, exhibiting delay, microcephaly, seizures and stereotypic hand movements, discuss this finding, together review literature. Additional patients clinical diagnosis Rett (-like) syndrome were also found to carry before (or without) signs magnetic resonance imaging (MRI). This information indicates should be added growing list genetic alterations linked syndrome. Further, symptoms ranged from early-onset epileptic encephalopathy male deletion mild cognitive female patient, suggesting analysis considered more often regardless severity. The increasing use next generation sequencing technologies well longitudinal follow-up an will help gain additional insight into spectrum mutations.