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R. Mukhopadhyay, Z. Li, S. Devery, G. Wright, T. Colclough, J. O'Sullivan, G. Black, S. Bhattacharya, A. Webster, A. Moore; A Survey of Molecular Pathology of 175 Families With Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2297.
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To survey families with autosomal dominant RP (ADRP) for mutations in known genes, to determine the spectrum of mutations in each gene and to estimate the proportion of dominant RP caused by the different genes.
All families registered with a diagnosis of ADRP on the Moorfields Eye Hospital genetic clinic database were included in the study. An affected member of each family was screened by sequencing for mutations in the RHO, RDS, and RP9 genes. We also looked for c.527+3 A>G and c.1115_1125del11 mutations in PRPF31, c.410 A>T mutation in PAP1, mutations in exon 42 of PRPF8, hotspot of exon 4 of RP1, exon 1 of NRL and exon 8 of IMPDH1 genes.
There were 176 dominant RP families with individuals from which DNA could be obtained. A causative mutation could be identified in 101 families while 75 families had no known mutations. Mutations in RHO, PRPF31 and RP1 were the commonest in that order. Of the families where the causative mutation was identified 41% had mutations in the rhodopsin gene and 23% had the two common mutations in PRPF31.
The causative mutations in families with ADRP can be identified using this strategy in 57% of families. The remaining families either have novel mutations in the known genes or mutations in genes that have not yet been identified.
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