Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site

T J Keen, C F Inglehearn, Douglas H. Lester, R Bashir, M Jay, A C Bird, B Jay, S S Bhattacharya

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    Abstract

    Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described. We report four new rhodopsin mutations in ADRP families, initially identified as hetero-duplexed PCR fragments on hydrolink gels. One is an in-frame 12-bp deletion of codons 68 to 71. The other three are point mutations involving codons 190, 211, and 296. Each alters the amino acid encoded. The codon 190 mutation has been detected in 2 from a panel of 34 ADRP families, while the remaining mutations were seen in single families. This suggests that, consistent with a dominant condition, no single mutation will account for a large fraction of ADRP cases. The base substitution in codon 296 alters the lysine residue that functions as the attachment site for 11-cis-retinal, mutating it to glutamic acid. This mutation occurs in a family with an unusually severe phenotype, resulting in early onset of disease and cataracts in the third or fourth decade of life. This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP.

    Original languageEnglish
    Pages (from-to)199-205
    Number of pages7
    JournalGenomics
    Volume11
    Issue number1
    DOIs
    Publication statusPublished - Sep 1991

    Fingerprint

    Retinitis Pigmentosa
    Rhodopsin
    Mutation
    Codon
    Retinaldehyde
    Phenotype
    Point Mutation
    Cataract
    Lysine
    Glutamic Acid
    Gels
    Amino Acids
    Polymerase Chain Reaction
    Genes

    Cite this

    Keen, T. J., Inglehearn, C. F., Lester, D. H., Bashir, R., Jay, M., Bird, A. C., ... Bhattacharya, S. S. (1991). Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site. Genomics, 11(1), 199-205. https://doi.org/10.1016/0888-7543(91)90119-Y
    Keen, T J ; Inglehearn, C F ; Lester, Douglas H. ; Bashir, R ; Jay, M ; Bird, A C ; Jay, B ; Bhattacharya, S S. / Autosomal dominant retinitis pigmentosa : four new mutations in rhodopsin, one of them in the retinal attachment site. In: Genomics. 1991 ; Vol. 11, No. 1. pp. 199-205.
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    abstract = "Several mutations in the rhodopsin gene in patients affected by autosomal dominant retinitis pigmentosa (ADRP) have recently been described. We report four new rhodopsin mutations in ADRP families, initially identified as hetero-duplexed PCR fragments on hydrolink gels. One is an in-frame 12-bp deletion of codons 68 to 71. The other three are point mutations involving codons 190, 211, and 296. Each alters the amino acid encoded. The codon 190 mutation has been detected in 2 from a panel of 34 ADRP families, while the remaining mutations were seen in single families. This suggests that, consistent with a dominant condition, no single mutation will account for a large fraction of ADRP cases. The base substitution in codon 296 alters the lysine residue that functions as the attachment site for 11-cis-retinal, mutating it to glutamic acid. This mutation occurs in a family with an unusually severe phenotype, resulting in early onset of disease and cataracts in the third or fourth decade of life. This result demonstrates a correlation between the location of the mutation and the severity of phenotype in rhodopsin RP.",
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    Keen, TJ, Inglehearn, CF, Lester, DH, Bashir, R, Jay, M, Bird, AC, Jay, B & Bhattacharya, SS 1991, 'Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site', Genomics, vol. 11, no. 1, pp. 199-205. https://doi.org/10.1016/0888-7543(91)90119-Y

    Autosomal dominant retinitis pigmentosa : four new mutations in rhodopsin, one of them in the retinal attachment site. / Keen, T J; Inglehearn, C F; Lester, Douglas H.; Bashir, R; Jay, M; Bird, A C; Jay, B; Bhattacharya, S S.

    In: Genomics, Vol. 11, No. 1, 09.1991, p. 199-205.

    Research output: Contribution to journalArticle

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