Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.

doi:10.1167/iovs.13-13567

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Article

Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.

Investigative ophthalmology & visual science - 7 Apr 2014

Jinda Worapoj, Taylor Todd D, Suzuki Yutaka, Thongnoppakhun Wanna, Limwongse Chanin, Lertrit Patcharee, Suriyaphol Prapat, Trinavarat Adisak, Atchaneeyasakul La-ongsri

Abstract excerpt

PURPOSE: To identify disease-causing mutations and describe genotype-phenotype correlations in Thai patients with nonsyndromic retinitis pigmentosa (RP). METHODS: Whole exome sequencing was performed in 20 unrelated patients. Eighty-six genes associated with RP, Leber congenital amaurosis, and cone-rod dystrophy were analyzed for variant detection. RESULTS: Seventeen variants (13 novel and 4 known) in 13 genes...

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