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A population‐based sequencing study of five Southern Finnish patients with Neuromyelitis Optica identified four rare missense variants each shared by two individuals, including one in ZNF606. No single rare variant was common to all cases, and no segregation analysis was reported (PMID:26616883). Current evidence does not support a homogeneous genetic etiology of NMO in this cohort.
Key Take-home: The association between ZNF606 and NMO remains limited and requires replication in larger cohorts and functional validation.
Gene–Disease AssociationLimitedSingle cohort of five NMO patients with one ZNF606 missense variant shared by two cases, lacking replication and segregation ([PMID:26616883]). Genetic EvidenceLimitedOne rare missense variant in ZNF606 observed in two of five probands without familial segregation data. Functional EvidenceNo EvidenceNo functional assays, expression studies, or model systems reported. |