Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

The article presents a case study of a male infant in 2002 who was diagnosed with non-syndromic infantile-onset retinal dystrophy and whose younger sister in 2006, was also diagnosed the same condition. Whole exome sequencing was used to test the boy's DNA in 2013 and identified a homozygous two-nucleotide delection in the IQCB1 gene. Further investigation of the boy at age twelve proved he has renal impairment and anaemia.