Molecular characterization of CHST6 in Egyptian families with macular corneal dystrophy reveals recurrent and novel variants

Key Points

• The aim is to characterize molecular variations of CHST6 associated with macular corneal dystrophy in Egyptian families.
• Identified novel CHST6 genetic variants in a specific Egyptian cohort.
• Analyzed the frequency of homozygosity among variants.
• Evaluated the role of consanguinity in the population's genetic landscape.
• Discovered recurrent and novel CHST6 variants linked to macular corneal dystrophy.
• Confirmed a high rate of homozygosity in the cohort.
• Found significant implications of consanguinity on the genetic burden of rare diseases.