Targeted phenotype/gene under study:
OMIM phenotype #304340 and gene #300629
Abstract
Pettigrew syndrome (PGS) is a rare X-linked recessive mental retardation syndrome that caused by monoallelic loss-of-function AP1S2 variants. Commonly affected males have inherited truncations or splice-site variants from unaffected mother. The syndrome is characterized by impaired intellectual development and highly variable additional features, including choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain. However, only few cases are reported.
The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum associated with mono-allelic loss-of-function variants in AP1S2.
Coordinating clinician
Allan Bayat – abaya@filadelfia.dk or bayabayabayat@hotmail.com
Institution
Department of Pediatrics, Danish Epilepsy Centre, Filadelfia
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: Yes
4- If available: raw EEG data (EDF) and 3D-T1-MRI sequences (DICOM)