A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect mutation in the rhodopsin gene (RHO) in a Chinese family with autosomal dominant retinitis pigmentosa (ADRP).</p><p><b>METHODS</b>A total of 25 family members from a Chinese family were investigated. All the subjects were examined clinically by direct funduscopy, perimetry and vision test. Evaluation of the proband included electroretinography (ERG). Genomic DNA was extracted using standard method. The complete coding regions of RHO were amplified by polymerase chain reaction (PCR) and the PCR products were subjected to automatic DNA sequencing.</p><p><b>RESULTS</b>512 C>T (P171L), a recurrent missense mutation was detected in the proband. All 12 affected subjects in the family were heterozygous for the mutation. The affected individuals had night blindness at the age of 5-6 years. They had relatively severe impairment of visual acuity and suffered a gradual loss of peripheral visual field at the age of 20-30 years. And they went blind at the age of 40-50 years. Rod and cone ERG were not detectable in the proband.</p><p><b>CONCLUSION</b>A recurrent missense mutation, 512C>T (P171L), was detected in a Chinese family with ADRP.</p>