Targeted gene(s)/phenotype under study:



AUTS2 syndrome is a novel condition characterized by variable ID, developmental delay, behavioral disorders, stereotypic movements, microcephaly, short stature, feeding difficulties, recurrent infections, epilepsy, ipertonia, rare congenital malformations (like mild heart defects, skeletal anomalies, umbilical/inguinal hernias, genital malformations, cerebral anomalies) and  dysmorphic facial features. Literature data about genotype-phenotype correlation and evolution of the clinical phenotype and behavioral aspects over time are limited. We have collected few novel patients with AUTS2 syndrome.  The aim of this study is to collect clinical and molecular data of patients with AUTS2 syndrome in order to better define the main clinical features and behavioral evolution and establish a genotype-phenotype correlation.

Coordinating clinicians/researchers

Prof.ssa Alessandra Renieri, MD, Ph.D  – 
Dott.ssa Anna Maria Pinto, MD, Ph.D – 
Dott.ssa Stefania Granata, 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