Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Sung, Ching Hwa; Davenport, Carol M.; Hennessey, Jill C.; Maumenee, Irene H.; Jacobson, Samuel G.; Heckenlively, John R.; Nowakowski, Rodney; Fishman, Gerald A.; Gouras, Peter; Nathans, Jeremy

doi:10.1073/pnas.88.15.6481

Cited by 399 publications

(244 citation statements)

References 17 publications

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“…Pro-347-Arg (CCG--,CGG) mutation was observed in a Swiss family (Gal et al, 1991). As to codon 17 in exon 1, the Thr-17-Met (ACG~ATG) mutation detected in our study has been observed in the United States Sung et al, 1991a;Richards et al, 1991;Fishman et al, 1992). The codon 58 mutation reported in the United States was absent among 24 families in the present study.…”

Section: Discussionsupporting

confidence: 48%

“…Now, more than 26 different kinds of single-base mutations and a few cases of deletion of codon (s) within the coding region of rhodopsin gene have been identified in ADRP patients (Inglehearn et al, 1991;Keens et al, 1991 ;Sung et al, 1991a;Dryja et al, 1991, etc.). Moreover, it has been identified that at least two distinct biochemical defects have been associated with different rhodopsin mutants in ADRP (Sung et al, 1991b).…”

Section: Discussionmentioning

confidence: 99%

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Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

et al. 1992

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SummaryThe mutations of codon 17, 23, 58, and 347 of rhodopsin gene were investigated in 24 unrelated Japanese families including 33 patients with autosomal dominant retinitis pigmentosa (ADRP). A patient with codon 17 mutation (Thr-17-Met, ACG~ATG) and a family including 4 patients with codon 347 mutation (Pro-347-Leu, CCG--,CTG) were detected among them. Their clinical findings were extremely different between the two mutations. The former showed type 2 and the latter showed type 1 ADRP. No mutation of codon 23 and 58 was detected in any families so far analyzed in the present study. Clinical findings associated with the mutation in codon 17 and 347 of the rhodopsin gene show an existence of allelic heterogeneity.

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Section: Discussionsupporting

confidence: 48%

Section: Discussionmentioning

confidence: 99%

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

et al. 1992

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“…Multiplex ligation-dependent probe amplification was normal, excluding a copy-number variant on the second allele as an explanation for the phenotype (Supplementary Figure S2 online). An F45L substitution has been reported to be pathogenic in ADRP patients, [29][30][31] however, the pathogenic mechanism could not be identified. 10 Bioinformatic analyses were inconclusive; the residue at site 45 is invariant across vertebrates (Supplementary Figure S1 online) and is found on the outer surface of the first TMD (Figure 2a and Supplementary Figure S3 online), but the Grantham score predicts that the effect of the F45L substitution should be minimal ( Table 2).…”

Section: Validation Of Functional Analysesmentioning

confidence: 99%

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

Davies

Downes

et al. 2012

Genetics in Medicine

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original research articlePurpose: The interpretation of genetic information has always been challenging, but next-generation sequencing produces data on such a vast scale that many more variants of uncertain pathogenicity will be found. We exemplify this issue with reference to human rhodopsin, in which pathogenic mutations can lead to autosomal dominant retinitis pigmentosa.methods: Rhodopsin variants, with unknown pathogenicity, were found in patients by next-generation and Sanger sequencing and a multidisciplinary approach was used to determine their functional significance.Results: Four variants in rhodopsin were identified: F45L, P53R, R69H, and M39R, with the latter two substitutions being novel. We investigated the cellular transport and photopigment function of all four human substitutions and found that the F45L and R69H variants behave like wild-type and are highly unlikely to be pathogenic. By contrast, P53R (a de novo change) and M39R were retained in the endoplasmic reticulum with significantly reduced functionality and are clearly pathogenic.conclusion: Potential pathogenicity of variants requires careful assessment using clinical, genetic, and functional data. We suggest that a multidisciplinary pathway of assessment, using several functional assays, will be required if next-generation sequencing is to be used effectively, reliably, and safely in the clinical environment. 2012:14(11):891-899 Genet Med

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“…Mutations in rhodopsin gene Sung et al, 1991a;Inglehearn et al, 1992;Macke et al, 1993), peripherin/RDS gene (Farrar et al, 1991;Kajiwara et al, 1991) and other candidate genes have been found in patients with RP. In Japan, three families with Thr-17-Met , Glu-181-Lys (Saga et al, 1994), or Pro-347-Leu mutation in the rhodopsin gene, and two families with Cys-214-Ser (Saga et al, 1993) or Asn-244-Lys mutation (Kikawa et al, 1994) in the peripherin/RDS gene have been reported as autosomal dominant RP (ADRP).…”

Section: Introductionmentioning

confidence: 99%

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

et al. 1995

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SummaryHeterozygous missense mutation in codon 15 of the rhodopsin gene was detected in a patient with autosomal dominant retinitis pigmentosa (ADRP), where a transition of adenine to guanine at the second nucleotide in codon 15 (AAT~AGT), corresponding to a substitution of serine residue for asparagine residue (Asn-15-Ser) was detected. None of the remaining unrelated 42 ADRP, 24 autosomal recessive RP (ARRP) and 34 normal individuals had this alteration. Her funduscopic findings were sectorial in type similar to that of the patients with the same mutation found in an Australian pedigree (Sullivan et al., 1993). This study shows phenotypic similarities in patients with the same mutation of a different ancestry.

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Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Cited by 399 publications

References 17 publications

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP)

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin

Missense mutation of rhodopsin gene codon 15 found in Japanese autosomal dominant retinitis pigmentosa

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