Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

الملخص EN

Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells.

This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology.

A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied.

All patients underwent a complete ophthalmic examination.

Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations.

A homozygous mutation c.437T

This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls.

Another three normal members in the family were found to carry this heterozygous missense mutation.

Our results emphasize the importance of c.437T