Targeted gene under study:
ORPHA 96186, OMIM #617352
Abstract
Maternal uniparental disomy of chromosome 20 (UPD(20)mat) is a rare but important cause of failure to thrive, short stature, and early feeding difficulties. Due to its pathophysiology, UPD(20)mat is not generally detected by broader spectrum testing methods, and due to lack of recognition it is not typically included on panels testing for other growth-related imprinting disorders such as Silver-Russell syndrome. This study aims to collate a series of UPD(20)mat cases and, via a survey completed by the clinician involved, gather information on presenting features, growth parameters, and interventions, to improve understanding of the condition, aid diagnosis, and guide management.
Coordinating team
Dr Edward Steel – Edward.steel2@nhs.net
Institutions
Clinical Genetics, London North West University Hospitals, London
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