Genetic analysis in a family with X-linked incomplete type of congenital stationary night blindness (CSNBi);Particularites cliniques et analyse genetique dans une famille atteinte de cecite nocturne non progressive congenitale hereditaire liee au chromosome X dans sa forme incomplete (CSNBi)

Journal Francais d'Ophtalmologie

Volumn 21, Issue 4, 1998, Pages 251-256

  Schmitt Bernard, C F ^a,b,c   Bareil, C ^a,c   Hamel, C P ^a,b   Beaufrere, L ^a,b,c   Arnaud, B ^a,b   Claustres, M ^a,c   De Meeus, A ^a,c  

^a Hôpital Gui de Chauliac ^*

^b GUI DE CHAULIAC HOSPITAL   (France)

^c Laboratoire de Biochimie Genetique   (France)

Author keywords

Congenital stationary night blindness; Genetic mapping; Linkage analysis; X chromosome

Indexed keywords

ARTICLE; DISEASE ASSOCIATION; DNA DETERMINATION; GENE MAPPING; GENETIC ANALYSIS; GENETIC LINKAGE; GENETIC PREDISPOSITION; HAPLOTYPE; HUMAN; MULTIGENE FAMILY; MYOPIA; NIGHT BLINDNESS; POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; TRINUCLEOTIDE REPEAT; ADOLESCENT; ADULT; CHILD; COMPARATIVE STUDY; FEMALE; GENETIC SUSCEPTIBILITY; GENETICS; HYPERMETROPIA; MALE; MIDDLE AGED; NYSTAGMUS; PEDIGREE; X CHROMOSOME;

ADOLESCENT; ADULT; ANTICIPATION, GENETIC; BLOTTING, SOUTHERN; CHILD; FEMALE; HAPLOTYPES; HUMANS; HYPEROPIA; LOD SCORE; MALE; MIDDLE AGED; MYOPIA; NIGHT BLINDNESS; NYSTAGMUS, PATHOLOGIC; PEDIGREE; POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEATS; X CHROMOSOME;

EID: 0032036872     PISSN: 01815512     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. MIYAKE Y., YAGASAKI K., HORIGUCHI M., KAWASE Y., KANDA T. - Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol, 1986; 104: 1013-1020.
2. TREMBLAY F., LAROCHE R.G., DE BECKER I. - The electroretinographic diagnosis of the incomplete form of congenital stationary night blindness. Vision Res, 1995; 35: 2383-2393.
3. BECH-HANSEN N.T., FIELD L.L., SCHRAMM A.M., REEDYK M., CRAIG I.W., FRASER N.J., PEARCE W.G. - 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; 84: 406-408.
4. BERGEN A.A.B., TEN BRINK J.B., RIEMSLAG F., SCHUURMAN E.J., TIJMES N. - Localization of a novel X-linked congenital stationary night blindness locus : close linkage to the RP3 type retinitis pigmentosa gene region. Hum Molec Genet, 1995; 4: 931-935.
5. BERGEN A.A.B., TEN BRINK J.B., RIEMSLAG F., SCHUURMAN E.J.M., MEIRE F., TIJMES N., DE JONG P.T.V.M. - Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1. J Med Genet, 1996; 33: 869-872.
6. ALDRED M.A., DRY K.L., SHARP D.M., VAN DORP D.B., BROWN J., HARDWICK L.J., LESTER D.H., PRYDE F.E., TEAGUE P.W., JAY M., BIRD A.C., JAY B., WRIGHT A.F. - Linkage analysis in X-linked congenital stationary night blindness. Genomics, 1992; 14: 99-104.
7. KHOURI G., METS M.B., SMITH V.C., WENDELL M., PASS A.S. - X-linked congenital stationary night blindness. Review and report of a family with hyperopia. Arch Ophthalmol, 1988; 106: 1417-1422.
8. PEARCE W.G., REEDYK M., COUPLAND S.G. - Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol, 1990; 25: 3-10.
9. LATHROP G.M., LALOUEL J.M., JULIER C., OTT J. -Multilocus linkage analysis in humans : detection of linkage and estimation of recombination. Am J Hum Genet, 1984; 37: 482-498.
10. HERRMANN K., MEINDL A., APLEISTEDT-SYLLA E., WISSINGER B., CICCODICOLA A., LORENZ B., WITTWER B., HERGERSBERG M., D'URSO M., MEITINGER T. - RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness. Communication. ARVO annual meeting, May 1997, Miami, USA.
11. HARDCASTLE A.J., DAVID-GRAY Z.K., JAY M., BIRD A.C., BHATTACHARYA S.S. - Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp. Invest Ophthalmol Vis Sci, 1997; 38: 2750-2755.
12. SEYMOUR A.B., DASH-MODI A., O'CONNEL J.R., SHAFFER-GORDON M., MAH T.S., STEFKO S.T., NAGARAJA R., BROWN J., KIMURA A.E., FERELL R.E., GORIN M.B. - Linkage analysis of X-linked Cone-Rod Dystrophy : Localization to Xp 11.4 and definition of a locus distinct from RP2 and RP3. Am J Hum Genet, 1998; 62: 122-129.
13. SCHALLING M., HUDSON T.J., BUETOW K.H., HOUSMAN D.E. - Direct detection of novel expanded trinucleotid repeats in the human genome. Nature Genet, 1993; 4: 135-139.