Exome sequencing reveals CCDC111 mutation associated with high myopia

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• High myopia is a global health concern, often leading to severe visual impairment and blindness.
• The genetic underpinnings of high myopia are complex and not fully understood.
• Identifying genetic factors is crucial for understanding disease mechanisms and developing interventions.

Purpose of the Study:

• To investigate the genetic basis of high myopia.
• To identify novel gene variants associated with high myopia in affected families and sporadic cases.
• To explore the expression patterns of candidate genes in ocular tissues.

Main Methods:

• Exome sequencing was performed on a high myopia family.
• A novel CCDC111 gene variant (c.265T>G; p.Y89D) was identified.
• The variant's presence was assessed in 270 sporadic high myopia patients and 270 controls.
• CCDC111 gene expression was analyzed in various human eye tissue cell cultures.

Main Results:

• A missense variant in the CCDC111 gene was identified in a high myopia family.
• This variant was found in 4 out of 270 sporadic high myopia patients but not in controls.
• The affected amino acid is evolutionarily conserved, and the substitution is predicted to be damaging.
• CCDC111 demonstrated ubiquitous expression across multiple human ocular cell types.

Conclusions:

• The identified CCDC111 variant may contribute to high myopia susceptibility.
• CCDC111 warrants further investigation as a potential genetic factor in high myopia.
• Understanding the role of CCDC111 could offer new insights into myopia pathogenesis.