Targeted gene(s)/phenotype under study

PTEN (OMIM # 158350 and # # 605309 or ORPHA code 210548 and 201)


We are looking for patients with i) PTEN hamartoma tumor syndrome (PHTS): Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, autism-macrocephaly, ii) causal PTEN variant, either de novo or inherited. PTSH is known for several decades but little is known about the phenotype of Cowden syndrome in children.
What is the kinetics of growth parameters? What is the timeline of appearance of the typical signs of PHTS? What is the proportion of children with PHTS and delayed psychomotor skills or learning difficulties? Do the natural history and PTEN variants of autism-macrocephaly syndrome differ from those of Cowden syndrome?
We would like to collect as many medical data from the paediatric files of patients with PHTS in order to find answers to these questions.
Our study called COSEA received approval from our ethics committee.
Children and adult patients can be recruited if paediatric data are available and if the patient or representatives consent to the study.

Coordinating clinicians/researchers

Dr Cyril Mignot


APHP-Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière et Hôpital Trousseau, Paris, France   

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