Gene/phenotype/disorder of interest
SALL2-related autosomal recessive ocular coloboma (SALL2; OMIM *602219; phenotype OMIM #216820)
Abstract
Autosomal recessive ocular coloboma caused by biallelic SALL2 variants has been reported in only one family. We aim to identify additional individuals with homozygous or compound heterozygous SALL2 variants and ocular phenotypes, including coloboma, retinoschisis, microphthalmia/anophthalmia, and optic disc or retinochoroidal abnormalities. The study aims to expand the phenotypic and genotypic spectrum, assess genotype–phenotype correlations, and investigate possible extraocular manifestations. We welcome cases with pathogenic/likely pathogenic variants or phenotype-compatible variants of uncertain significance supported by segregation data. Contributors will be asked to provide relevant ophthalmological, clinical, molecular, and familial data. Ocular imaging and clinical photographs are encouraged when appropriate consent is available.
Coordinating clinicians
- Ali Babazade; alibabazade.sci@gmail.com
- Ozan Vural; dr.ozanvural@gmail.com
- Mehmet Ali Ergün; maliergun@gmail.com
Institution
Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Türkiye
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: N
- Resampling of patients: N
- Linked to a translational/basic research project? N