CLINICAL VARIABILITY IN A FAMILY WITH X-LINKED RETINAL DYSTROPHY AND THE LOCUS AT THE RP3 SITE

被引：11

作者：

KEITH, CG ^{[1
]}

DENTON, MJ ^{[1
]}

CHEN, JD ^{[1
]}

机构：

[1] ROYAL CHILDRENS HOSP,PARKVILLE,VIC 3052,AUSTRALIA

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1991年 / 12卷 / 02期

关键词：

X-LINKED RETINAL DYSTROPHY XLRP; XLRP GENE LOCI; CLINICAL HETEROGENEITY; GENETIC HETEROGENEITY; ROD-CONE DEGENERATIONS; CONE-ROD DEGENERATIONS; MACULAR DEGENERATION;

D O I：

10.3109/13816819109023680

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

One large Australian family with X-linked retinal dystrophy was found to have extreme clinical variability in the hemizygotes. One member had the typical rod-cone disease, three had the cone-rod pattern and one had macroscopic changes in the macular area only, but with low potentials in the ERG. The locus for the disease was found to be distal to L1.28 at Xp21, the site for RP3. From a study of case histories reported it seems that clinical variability can be a common feature of X-linked retinitis pigmentosa (XLRP) with the locus at Xp11.3 (RP2) or at Xp21 (RP3), and this family may well be categorized as XLRP.

引用

页码：91 / 98

页数：8

共 12 条

[1]

Bhattacharya S.S., Wright A.F., Clayton J.F., Price W.H., Phillips C.I., McKeown C.M.E., Jay M., Bird A.C., Pearson P.L., Southern E.M., Evans J.H., Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28, Nature, 309, pp. 253-255, (1984)

[2]

Wright A.F., Bhattacharya S.S., Price W.H., Phillip C.I., McKeown C., Crews S.J., Jay M., Bird A.C., DNA probes in X-linked retinitis pigmentosa, Br J Ophthalmol, 59, pp. 177-199, (1975)

[3]

Bird A.C., X-linked retinitis pigmentosa, Br J Ophthalmol, 59, pp. 177-199, (1975)

[4]

Heckenlively J.R., Bird A.C., X-linked recessive retinitis pigmentosa, Retinitis Pigmentosa, (1988)

[5]

Denton H.J., Chen J.D., Serravalle S., Halliday F.B., Keith C.G., Dickinson P., Sheffield L., Constable I., Grey R., Kelleher I., Mitchell P., The location of the gene responsible for X-linked retinitis pigmentosa, pp. 31-38, (1988)

[6]

Denton J.F., Chen J.D., Serravalle S., Colley P., Halliday K.B., Donald J., Analysis of linkage relationships of X-linked retinitis pigmentosa with the following Xp loci: L1.28, OTC.754, XJ-1.1, pERT87, and CR, Hum Genet, 78, pp. 60-64, (1988)

[7]

Chen J., Halliday F., Dickinson P., Gray R., Keith C.G., Frazer N., Constable I., Sheffield L., Denton M., X-linked retinitis pigmentosa: genetic heterogeneity and gene localization, pp. 39-44, (1988)

[8]

McKusick V.A., Mendelian Inheritance in Man 8th edn., pp. 1373-1374, (1988)

[9]

Francke V., Ochs H.D., de Martinville B., Giacalone J., Lindgren V., Disteche C., Pagon R.A., Hofker M.H., Van Ommen G.J.B., Pearson P.L., Wedgwood R.J., Minor Xp21 chromosome deletion in a male associated with expression of Duchcnne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa and McLeod syndrome, Am J Hum Genet, 37, pp. 250-267, (1985)

[10]

Musarella M.A., Argonaza R., Burghes A., Worton R., Location of the gene for XI.RP by linkage analysis (abstract), Am J Hum Genet, 41, (1987)

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