Gene/phenotype/disorder under study
ERI2 / Candidate autosomal-recessive neurodevelopmental disorder
Abstract
Rare biallelic variants in ERI2 have not yet been definitively associated with a Mendelian disorder. We have identified two unrelated individuals from consanguineous families carrying distinct homozygous truncating ERI2 variants. Both individuals show global developmental delay and hypotonia, with variable neurological findings including absent or markedly delayed speech, epilepsy, brain structural or white-matter abnormalities, and peripheral neuropathy. This collaborative study aims to identify additional individuals with biallelic ERI2 variants, evaluate the proposed gene-disease association, and delineate the clinical and molecular spectrum. We invite de-identified clinical, neuroimaging, electrophysiological, and molecular data from potentially relevant cases.
Coordinating clinician
Sajjad Biglari, PhD, Medical Geneticist – s1369b@yahoo.com
Institution
Farin Medical Genetics Laboratory, Tehran, Iran
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: : If required, to confirm candidate variants, assess segregation, or exclude alternative molecular diagnoses
2- Resampling of patients: Potentially, subject to informed consent and sample availability, for RNA, protein, or other functional studies.
3- Linked to a translational/basic research project: Potentially. Functional studies may assess transcript stability, protein expression, and RNA-processing pathways, depending on sample availability and research collaborations.