Targeted gene(s)/phenotype under study



Alterations in NAA15 have been recently linked to MRD50 (OMIM: 617787), condition with a highly variable phenotype. It is characterized by intellectual disability, behavioural problems, and various congenital abnormalities. Up to date, literature data about NAA15-related disorder are limited and the phenotypic spectrum varies from patients with only mild behavioural problems to more complex clinical pictures. The aim of this study is to collect clinical and molecular data of patients with NAA15 variants or rearrangements involving NAA15  in order to better define the main clinical features and to establish a genotype-phenotype correlation.

Coordinating clinicians/researchers

Prof.ssa  Alessandra Renieri, MD, Ph.D

Dott. ssa Anna Maria Pinto,MD,Ph.D

Dott. Lorenzo Loberti; MD


UOC Genetica Medica, Policlinico Le Scotte , 53100 Siena

Specific requirements beyond clinical data and genotype data sharing

  • Re-analysis of DNA samples: No
  • Resampling of patients: No
  • Linked to a translational/basic research project: No