We welcome international collaboration for the collection of additional cases of OCLN-related disorder. Given the rarity of this condition and the technical difficulty in confirming OCLN variants because of the nearby pseudogene, pooling clinical, neuroimaging, and molecular data across centers is particularly valuable.
Aims:To expand the clinical and molecular delineation of OCLN-related disorder, with particular focus on:
• Confirming and further characterizing the Egyptian exon 3–4 deletion as a possible founder variant, including formal haplotype analysis
• Better defining the prevalence and natural history of renal involvement and diabetes insipidus
• Establishing genotype-phenotype correlations, where possible
• Developing and disseminating a practical, pseudogene-aware molecular testing strategy for OCLN
Inclusion criteria: Any individual with confirmed biallelic pathogenic or likely pathogenic variants in OCLN, regardless of age or ethnic background.
Contact: Clinicians and researchers interested in collaboration are welcome to contact the lead moderator: Prof. Maha S. Zaki: dr_mahazaki@yahoo.com
OCLN