A potentially pathogenic KDM5C variant in X-linked high myopia

Area of Science:

• Ophthalmology
• Genetics
• Molecular Biology

Background:

• High myopia is a complex ocular disease with strong genetic components and familial clustering.
• While various inheritance patterns exist, genetic variants for X-linked high myopia remain under-documented.
• Understanding the genetic basis is crucial for diagnosis and potential treatments.

Purpose of the Study:

• To identify novel genetic variants associated with X-linked high myopia.
• To investigate the role of the Lysine demethylase 5C (KDM5C) gene in high myopia.
• To expand the known spectrum of KDM5C variants and their clinical relevance.

Main Methods:

• Whole exome sequencing was employed to screen for genetic variants in affected individuals.
• Sanger sequencing was used to confirm the presence of the identified variant in the family.
• Bioinformatic analysis was performed to predict the pathogenicity of the novel variant.

Main Results:

• A novel missense variant (c.A3043T: p.Arg1015Trp) in the KDM5C gene was identified in a Chinese family with X-linked high myopia.
• The variant segregated with the disease phenotype within the family.
• Bioinformatic predictions suggested the variant may impact KDM5C protein function.

Conclusions:

• The identified KDM5C variant (c.A3043T: p.Arg1015Trp) is potentially correlated with X-linked high myopia.
• This discovery contributes to a better understanding of the genetic underpinnings of X-linked high myopia.
• The study expands the known variant spectrum for KDM5C, offering new avenues for research.