Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)

Berger, Wolfgang; Duijnhoven, G.C.F. van; Pinckers, A.; Smits, A.P.T.; Ropers, Hans‐Hilger; Cremers, Frans P.M.

doi:10.1007/bf00225077

Cited by 9 publications

(7 citation statements)

References 15 publications

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“…In two other families (families 3 and 4; Aldred et al 1992), crossovers localized the CSNB gene to the region proximal to DMD, again overlapping with proposed minimal regions for both the CSNB1 and the CSNB2 genes. Reported crossovers in a Dutch family localized the CSNB gene to the region between OTC and DXS1003 (Berger et al 1995); this finding is consistent with segregation of the CSNB1 gene in this family. An affected male in another Dutch CSNB family (Bergen et al 1995) carried a double-recombinant chromosome that localized the CSNB gene to the region between DMD44 and DXS228, which again overlaps with the CSNB1 minimal region.…”

Section: Discussionsupporting

confidence: 80%

“…Furthermore, recombinant chromosomes in families that have been ex-amined to date have provided location information for X-linked CSNB, but seldom have individual families provided both close proximal and distal limits for a minimal genetic region that contains the disease gene. Data from the few families that are highly informative indicate that a minimum of two loci for X-linked CSNB are possible: one proximal to DXS426 (Bech-Hansen et al 1991) and one in the region distal to DXS1003-TIMP1-DXS426 (Musarella et al 1989;Aldred et al 1992;Berger et al 1995) or DXS228 (Bergen et al 1995).…”

Section: Introductionmentioning

confidence: 99%

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Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Boycott

Pearce

Musarella

et al. 1998

The American Journal of Human Genetics

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X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB is clinically heterogeneous, and it may also be genetically heterogeneous. We have studied 32 families with X-linked CSNB, including 11 families with the complete form of CSNB and 21 families with the incomplete form of CSNB, to identify genetic-recombination events that would refine the location of the disease genes. Critical recombination events in the set of families with complete CSNB have localized a disease gene to the region between DXS556 and DXS8083, in Xp11.4-p11.3. Critical recombination events in the set of families with incomplete CSNB have localized a disease gene to the region between DXS722 and DXS8023, in Xp11.23. Further analysis of the incomplete-CSNB families, by means of disease-associated-haplotype construction, identified 17 families, of apparent Mennonite ancestry, that share portions of an ancestral chromosome. Results of this analysis refined the location of the gene for incomplete CSNB to the region between DXS722 and DXS255, a distance of 1.2 Mb. Genetic and clinical analyses of this set of 32 families with X-linked CSNB, together with the family studies reported in the literature, strongly suggest that two loci, one for complete (CSNB1) and one for incomplete (CSNB2) X-linked CSNB, can account for all reported mapping information.

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Section: Discussionsupporting

confidence: 80%

Section: Introductionmentioning

confidence: 99%

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Boycott

Pearce

Musarella

et al. 1998

The American Journal of Human Genetics

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“…Boycott et al, 1998) and CSNB1 (e.g. Berger et al, 1995;Pusch et al, 2001), were identified. Subsequently, two candidate genes (predicted function), present in the linked region, were cloned and confirmed the genetic cause of CSNB2 (CACNA1F (BechHansen et al, 1998;Strom et al, 1998)) and CSNB1 (NYX (BechHansen et al, 2000;Pusch et al, 2000)).…”

Section: Gene Identification Strategiesmentioning

confidence: 99%

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Zeitz

Robson

Audo

2015

Progress in Retinal and Eye Research

306

382

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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).…”

mentioning

confidence: 86%

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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Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)

Abstract: Linkage analysis has been performed in a large

Cited by 9 publications

References 15 publications

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Evidence for Genetic Heterogeneity in X-Linked Congenital Stationary Night Blindness

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

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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