Novel mutation in TENM3 gene in an Iranian patient with colobomatous microphthalmia

This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with similar disease manifestations. The present finding can be used for genetic diagnosis and detection of carriers in the family and other patients with similar disease manifestations.