X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

Meire, Françoise; Bergen, Arthur A. B.; Rouck, A. De; Leys, Monique; Delleman, J. W.

doi:10.1136/bjo.78.2.103

Cited by 24 publications

(15 citation statements)

References 13 publications

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“…2 UHX1, ubiquitin activating enzyme E1 (UBE1) and PCTK1 3 have all previously been mapped to Xp21.2-p11.2, a region known to contain several retinal diseases, including X-linked congenital stationary night blindness, [4][5][6][7] X-linked retinitis pigmentosa types 2 and 3 (RP2, RP3) [8][9][10][11] and X-linked cone dystrophy (XLCOD), 12 (for review see Rosenfeld et al 13 ). In addition to UHX1's possible retinal function, recent data suggest a role for ubiquitin C-terminal hydrolase in long-term facilitation in Aplysia.…”

Section: Introductionmentioning

confidence: 99%

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2

Brandau

Nyakatura²,

Jedele

et al. 1998

Eur J Hum Genet

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The gene for ubiquitin hydrolase on the X chromosome (UHX1), cloned and mapped to Xp21.2-p11.2, is a candidate gene for retinal diseases. We used fine mapping techniques to localise UHX1 between markers DXS1266 and DXS337, where congenital stationary night blindness (XlCSNB) and retinitis pigmentosa type 2 (RP2) are also located. Reevaluation of the UHX1 gene structure demonstrated five new exons, for a total of 21 exons and a predicted protein product of 963 amino acids. Evaluation of patients revealed no UHX1 mutations using SSCP (10 CSNB1 and 20 XLRP) or deletion screening with cDNA hybridisation (13 CSNB1 and 43 XLRP). Likewise, no aberrations were found in the nearby PCTAIRE1 (PCTK1) gene in 13 CSNB1 and 43 XLRP patients by deletion screening. Thus mutations of UHX1, and probably PCTK1, do not appear to cause common X-linked eye diseases. UHX1's role in patients with mental retardation may be appropriate for further investigations into UHX1 function.

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Section: Introductionmentioning

confidence: 99%

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2

Brandau

Nyakatura²,

Jedele

et al. 1998

Eur J Hum Genet

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“…The fairly rare cone dystrophy is classified into the congenital stationary form with inborn absence or functional disorder of the cones, and the progressive form [1][2][3][4][5][6][7] . Progressive cone dystrophy (PCD) is inherited autosomally dominantly or recessively, or recessively linked to the X chromosome, however its incidence is often sporadic [1][2][3][4][5][6][7][8][9][10][11][12] . Visual acuity (VA) in the affected individuals is usually normal during childhood and only gradually deteriorates, often leading to legal blindness.…”

Section: Introductionmentioning

confidence: 99%

“…Visual acuity (VA) in the affected individuals is usually normal during childhood and only gradually deteriorates, often leading to legal blindness. Impaired VA is accompanied by a defective colour sense, visual field defects, photophobia 1,2,[4][5][6][7][8][9][10][13][14][15] and in some patients with affected rods also by nyctalopia 3,6,7,9 . Visual field defects include central scotomata 1,3,6,9,12,13 , annular scotomata around the centre 1,3 , diffuse reduction in sensitivity 12 and rarely, peripheral scotomata [1][2][3]6,9 .…”

Section: Introductionmentioning

confidence: 99%

“…Electrophysiological examinations show clear reduction in or even elimination of the cone function with normal or reduced response of the rods. ERG changes precede the decline in subjective visual functions [1][2][3][4][5][7][8][9][10][11][13][14][15] . The forms of progressive dystrophy with functional deficiency limited to the photopic system are termed progressive cone dystrophy 2,6 .…”

Section: Introductionmentioning

confidence: 99%

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Optical coherence tomography in progressive cone dystrophy

Záhlava¹,

Lešták²,

Karel³

2014

BIOMED PAP

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“…Two forms of autosomal congenital stationary night blindness (CSNB) have been shown to be allelic to RP: Both CSNB and RP can result from mutations in (1) the rhodopsin gene (Dryja et al 1993;Rao et al 1994); and (2) the gene encoding the [3-subunit of the rod cGMP phosphodiesterase (Gal et al 1994). The refinement of the RP2 critical interval described here may have significant implications for the localization of other inherited X-linked retinal disorders that have overlapping map locations in Xp11.3-Xp11.22 and which may be allelic to RP2 that is, CSNBX (Aldred et al 1992;Bech-Hansen et al 1992;Berger et al 1995) and X-linked progressive cone dystrophy (Hong et al 1994;Meire et al 1994).The identification of DXS6616 as the new proximal flanking marker for RP2 has also enabled us to exclude several genes as potential candidates for this disorder. Four retinally expressed genes have been mapped to the OATL1 region in Xp11.23 by direct selection using an OATL1 YAC to screen a retinal cDNA library (Geraghty et al 1993).…”

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confidence: 99%

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.

Thiselton¹,

Hampson²,

Nayudu³

et al. 1996

Genome Res.

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Genetic linkage studies have implicated at least two loci for X-linked retinitis pigmentosa (XLRP) on proximal Xp. We now report a defined genetic localization for the RP2 locus to a 5-cM interval in Xp11. 3-11.23. Haplotype analysis of polymorphic markers in recombinant individuals from two XLRP families has enabled us to identify DXS8083 and DXS6616 as the new distal and proximal flanking markers for RP2. Using STS-content and YAC end-clone mapping, an -1.2 Mb YAC contig has been established encompassing the proximal RP2 boundary and extending from TIMP1 to DXSI240 in Xpll.23. Several ESTs have been positioned and ordered on this contig, one of which is novel to the region, identified by sequence data-base match to a physically mapped YAC insert terminal STS. Integration of the genetic and physical data has placed four retinally expressed genes proximal to DXS6616, and thereby excluded them from a causitive role in RP2. This work now provides a much needed focus for positional cloning approaches to isolation of the defective gene.Retinitis pigmentosa (RP) is a group of hereditary progressive retinal degenerations characterized by night blindness, visual field impairment, and degenerative pigmentary changes in the retina. RP exists as autosomal dominant, autosomal recessive, and X-linked forms and displays considerable genetic heterogeneity with at least 15 distinct loci so far assigned to human chromosomes (for review, see Dryja et al. 1995). X-linked retinitis pigmentosa (XLRP) is the most severe clinical form, accounting for 7-30% of all cases, depending on the population studied, with an incidence of-1:20,000 (Jay 1982;Heckenlively 1983). Male XLRP patients generally develop concentric visual field loss before the 20th year of life leading to severe visual handicap by the age 6Corresponding author. E-MAIL ahardcas@hgmp.mrc.ac.uk; FAX 44-171-608-6863.of 40 (Bird 1975). Female carriers show variable symptoms of the disease on ophthalmological testing, with visual impairment usually beginning in middle age, although absence of ocular abnormalities does not exclude the carrier state (Arden et al. 1983).In the absence of functional clues as to the pathophysiology of XLRP, positional cloning strategies have been adopted to isolate the defective genes. Following the first genetic linkage of an RP gene (designated RP2) to Xp11.3 in a panel of British families (Bhattacharya et al. 1984), subsequent genetic analyses have indicated the existence of at least three other XLRP loci (RP3, RP6, and RP15) located more distally on Xp (Musarella et al. 1990;Ott et al. 1990;Teague et al. 1994;McGuire et al. 1995) and the fact that the disease in some families maps to none of these locations suggests the possibility of even more XLRP loci (Aldred et al. 1994). As evidence for RP6 is to date only statistical (Ottet al. 1990), and RP15 has been demonstrated in only one family (which is THISELTON ET AL.reported as a cone-rod degeneration; McGuire et al. 1995), the majority of XLRP families fall into the categories of RP2 or RP3...

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X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

Cited by 24 publications

References 13 publications

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2

UHX1 and PCTK1: precise characterisation and localisation within a gene-rich region in Xp11.23 and evaluation as candidate genes for retinal diseases mapped to Xp21.1–p11.2

Optical coherence tomography in progressive cone dystrophy

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping.

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