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

Abstract

Abstract 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.

Keywords

• coloboma
• gene
• microphthalmia
• mutation
• novel
• TENM3