Identification of a novel ALMS1 pathogenic variant in a family with Cone-Rod Dystrophy using whole exome sequencing, followed by prenatal diagnosis

This study provides further evidence that how recently developed high throughput sequencing can overcome the diagnostic hurdles encountered in heterogeneous disorders. It also demonstrates that this approach provides clinicians with new tools for early diagnosis, management, and prevention of such otherwise clinically hard-to-detect disorders. Hence, the “genotype-first” approach presented here is more likely to uncover the diagnosis of heterogeneous disorders compared to traditionally “phenotype-first” attitude.