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This summary evaluates the association between CIZ1 (HGNC:16744) and benign essential blepharospasm (MONDO_0011728). Benign essential blepharospasm is characterized by involuntary eyelid spasms that can be familial, often suggesting an autosomal dominant mode of inheritance with reduced penetrance.
In a screening study of 20 Chinese patients with benign essential blepharospasm, a familial case was identified in which a mutation in CIZ1 was observed (PMID:32038460). Additionally, a larger screening study in 132 patients reported a CIZ1 variant, c.1820A>G (p.Glu607Gly), although variants in CIZ1 in that cohort were generally classified as benign (PMID:30956059).
Genetic evidence for CIZ1 in benign essential blepharospasm remains limited. Only one familial case has provided supportive segregation data, and the sole reported HGVS variant, c.1820A>G (p.Glu607Gly), was detected in a context of a multi‐gene panel screening. This variant meets the criteria as a complete coding change with both c. and (p…) descriptions.
Functional studies specific to the link between CIZ1 and benign essential blepharospasm are lacking. Although CIZ1 has been implicated through functional assessments in other disease contexts, such as aberrant splicing in cancer and dystonia, none of these experiments have directly demonstrated a pathogenic mechanism for benign essential blepharospasm.
Overall, the integration of genetic findings and limited segregation data suggests a limited clinical validity for the association of CIZ1 with benign essential blepharospasm. While additional evidence may emerge, current data support its consideration as a candidate gene with potential utility in diagnostic decision‑making, pending further validation.
Key Take‑home: The association between CIZ1 and benign essential blepharospasm is supported by limited genetic evidence, warranting cautious interpretation in clinical and research settings.
Gene–Disease AssociationLimited1 familial case identified in a 20-patient cohort (PMID:32038460) and an additional variant reported with uncertain significance in a study of 132 patients (PMID:30956059). Genetic EvidenceLimitedA single reported complete coding variant in CIZ1 (c.1820A>G (p.Glu607Gly)) detected within a multi-gene panel supports an association under an autosomal dominant model, though the evidence is sparse. Functional EvidenceLimitedNo direct functional assays have been conducted to link CIZ1 to benign essential blepharospasm, with available studies focusing on other phenotypes. |