Targeted gene under study:
FTO (OMIM # 612938), Growth retardation, developmental delay, facial dysmorphism
Abstract
Biallelic variants in FTO cause growth retardation, developmental delay, facial dysmorphism and malformations. A limited number of families have been reported earlier. We have documented a severe perinatal presentation in one family (DOI: 10.1055/a-1104-3625), and have identified additional families with early childhood presentations of variable severity. We aim to further delineate the phenotypic and genetic spectrum of the disorder by collecting and comparing clinical and genetic data. We are interested in both prenatal and postnatal manifestations.
Coordinating clinicians
Prof. Dr. Isabel Filges, MD – Isabel.Filges@usb.ch
Dr. Radhakrishnan Periyasamy, PhD – radhakrishnan.periyasamy@usb.ch
Institution
Medical Genetics, University Hospital Basel
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: No