Closed
Targeted gene under study
DOWN SYNDROME CELL ADHESION MOLECULE; DSCAM (OMIM * 602523)
Abstract
DSCAM occupies a 1 Mb locus in the original Down syndrome critical region on 21q22 and encodes a neuronal cell adhesion molecule of importance for brain and eye development. We have seen DZ twins both homozygous for a DSCAM nonsense variant. The twins’ phenotype overlapped with two previously published individuals with biallelic DSCAM loss-of-function (LOF) variants. In an effort to establish whether DSCAM loss leads to a novel, syndromic neurodevelopmental disorder, we call for further cases with biallelic, LOF DSCAM variants.
Coordinating clinicians/researchers
Sofia Douzgou Houge – sofia.douzgou.houge@helse-bergen.no
Institution
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
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