IQSEC2-related phenotype

Targeted gene(s)/phenotype under study: IQSEC2

Abstract : IQSEC2 is a new gene related to an X-linked intellectual disability, characterized by a highly variable phenotype partially overlapping Rett syndrome. To date the mechanisms underlying this broad clinical variability are not fully understood both in male and female patients. The aim of this study is to collect clinical and molecular data of patients harbouring a mutation in IQSEC2 gene in order to better define the clinical wide spectrum of IQSEC2 gene related phenotype.

Coordinating clinician: Pr Alessandra Renieri, MD, PhD

Institution (dept, hospital, City):

U.O.C. Genetica Medica, Università diSiena – Dipartimento di Biotecnologie Mediche; Azienda Ospedaliera
Universitaria Senese – Ospedale Santa Maria alle Scotte

Viale Mario Bracci,


Contact email:

Specific requirements beyond clinical data and genotype data sharing: 

  • Re-analysis of DNA samples :  N  
  • Resampling of patients No if the trio is available : N
  • Linked to a translational/basic research project? N