Genomics. 1992 Feb;12(2):409-11.

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.

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Department of Paediatrics, Alberta Children's Hospital, Calgary, Canada.

Abstract

A recombinant chromosome in a male affected with X-linked congenital stationary night blindness (CSNB1) provides new information on the location of the CSNB1 locus. A four-generation family with five males affected with X-linked CSNB was analyzed with five polymorphic markers for four X-chromosome loci spanning the region OTC (Xp21.1) to DXS255 (Xp11.22). Four of the males inherited the same X chromosome; one male inherited a chromosome that from OTC to DXS7, inclusive, was derived from the normal X chromosome of his unaffected grandfather and that from a location between DXS7 and DXS426 proximally was derived from the chromosome carrying the CSNB1 locus. This recombinant maps the CSNB1 locus in this family to a region on the short arm of the X chromosome proximal to the DXS7 locus.

PMID:: 1740347; [PubMed - indexed for MEDLINE]

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Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. [Genomics. 1989]
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.
Musarella MA, Weleber RG, Murphey WH, Young RS, Anson-Cartwright L, Mets M, Kraft SP, Polemeno R, Litt M, Worton RG. Genomics. 1989 Nov; 5(4):727-37.
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. [Am J Hum Genet. 1993]
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.
Bech-Hansen NT, Pearce WG. Am J Hum Genet. 1993 Jan; 52(1):71-7.
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome. [Hum Genet. 1990]
A locus for X-linked congenital stationary night blindness is located on the proximal portion of the short arm of the X chromosome.
Bech-Hansen NT, Field LL, Schramm AM, Reedyk M, Craig IW, Fraser NJ, Pearce WG. Hum Genet. 1990 Apr; 84(5):406-8.
Review Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. [Arch Ophthalmol. 1989]
Review Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness.
Weleber RG, Pillers DA, Powell BR, Hanna CE, Magenis RE, Buist NR. Arch Ophthalmol. 1989 Aug; 107(8):1170-9.
Review X-linked congenital stationary night blindness. Review and report of a family with hyperopia. [Arch Ophthalmol. 1988]
Review X-linked congenital stationary night blindness. Review and report of a family with hyperopia.
Khouri G, Mets MB, Smith VC, Wendell M, Pass AS. Arch Ophthalmol. 1988 Oct; 106(10):1417-22.

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Cited by 7 PubMed Central articles

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. [Am J Hum Genet. 1998]
Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.
Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. Am J Hum Genet. 1998 Apr; 62(4):865-75.
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. [J Med Genet. 1996]
Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1.
Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Meire F, Tijmes N, de Jong PT. J Med Genet. 1996 Oct; 33(10):869-72.
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity. [Am J Hum Genet. 1993]
Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: demonstration of homozygosity.
Bech-Hansen NT, Pearce WG. Am J Hum Genet. 1993 Jan; 52(1):71-7.

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Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.

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