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Leyla Soraya Camarillo Blancarte

Mexican Ministry of Health, Mexico

Title: Workshop: Molecular diagnosis of congential cataract using next - generation sequencing

Biography

Biography: Leyla Soraya Camarillo Blancarte

Abstract

Congenital cataracts (CC) are an important cause of childhood blindness worldwide with an estimated frequency of 1-15/10,000 live births1,2. CC can arise from diverse environmental influences such as intrauterine infections or genetic causes including chromosomal or monogenic factors3. Approximately 22-40% of CC are caused by single-gene mutations and more than 40 genes have been associated. Next generation sequencing (NGS) is a powerful tool for the analysis of genetically heterogeneous diseases such as CC. Recently published NGS reports have detection rates ranging from 60-80%4,5. To date, the vast majority of CC-NGS diagnostic studies are in developed countries. The aim of this study is to establish the diagnostic rate and the mutational spectrum identified by clinical exome sequencing in a cohort of Mexican patients suffering from hereditary CC.

Eleven probands of Mexican-Mestizo descent with a family history of CC were included. NGS was performed in 10 probands and Illumina TruSight One Inherited Disease Panel in one proband. Sanger sequencing was carried out on probands to validate pathogenic variants, and co-segregation analysis was subsequently performed on available family members. In silico analysis was employed for detecting pathogenicity in missense variants.

A total of 6 pathogenic variants were detected in this cohort, detection rate of 55%. Novel variants: CRYGA p.Arg48Cys, CRYBB2 p.Gly149Asp, CRYGC p.Phe6Ser (repeated in two unrelated families), GJA8 p.Gly8_Leu11del. One previously reported variant, EPHA2, c.2826-9G>A was detected in one family. The families carrying the CRYGC variant are both from the same region in Oaxaca, Mexico, which opens the possibility of detecting a founder mutation in the future. This is the first report of NGS in CC patients in our population. Expansion of NGS-based diagnosis in clinical practice in developing countries must be encouraged, as it will improve current diagnostic rates and more rationalized follow-up of affected patients.