Literature DB >> 1923319

Clinical variability in a family with X-linked retinal dystrophy and the locus at the RP3 site.

C G Keith1, M J Denton, J D Chen.   

Abstract

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.

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Mesh：

Year:  1991        PMID： 1923319     DOI： 10.3109/13816819109023680

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN： 0167-6784


  8 in total

Review 1.  Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.

Authors:  William A Beltran; Artur V Cideciyan; Alfred S Lewin; William W Hauswirth; Samuel G Jacobson; Gustavo D Aguirre
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-09       Impact factor: 6.915

2.  Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.

Authors:  Abigail T Fahim; Sara J Bowne; Lori S Sullivan; Kaylie D Webb; Jessica T Williams; Dianna K Wheaton; David G Birch; Stephen P Daiger
Journal:  Adv Exp Med Biol       Date:  2012       Impact factor: 2.622

3.  Remapping of the RP15 locus for X-linked cone-rod degeneration to Xp11.4-p21.1, and identification of a de novo insertion in the RPGR exon ORF15.

Authors:  A J Mears; S Hiriyanna; R Vervoort; B Yashar; L Gieser; S Fahrner; S P Daiger; J R Heckenlively; P A Sieving; A F Wright; A Swaroop
Journal:  Am J Hum Genet       Date:  2000-09-01       Impact factor: 11.025

4.  X-Chromosome Inactivation Is a Biomarker of Clinical Severity in Female Carriers of RPGR-Associated X-Linked Retinitis Pigmentosa.

Authors:  Abigail T Fahim; Lori S Sullivan; Sara J Bowne; Kaylie D Jones; Dianna K H Wheaton; Naheed W Khan; John R Heckenlively; K Thiran Jayasundera; Kari H Branham; Chris A Andrews; Mohammad I Othman; Athanasios J Karoukis; David G Birch; Stephen P Daiger
Journal:  Ophthalmol Retina       Date:  2019-11-18

5.  Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Authors:  Jason Charng; Artur V Cideciyan; Samuel G Jacobson; Alexander Sumaroka; Sharon B Schwartz; Malgorzata Swider; Alejandro J Roman; Rebecca Sheplock; Manisha Anand; Marc C Peden; Hemant Khanna; Elise Heon; Alan F Wright; Anand Swaroop
Journal:  Hum Mol Genet       Date:  2016-12-15       Impact factor: 6.150

6.  Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.

Authors:  Abigail T Fahim; Sara J Bowne; Lori S Sullivan; Kaylie D Webb; Jessica T Williams; Dianna K Wheaton; David G Birch; Stephen P Daiger
Journal:  PLoS One       Date:  2011-08-12       Impact factor: 3.240

7.  Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking.

Authors:  Marzio Chizzolini; Alessandro Galan; Elisabeth Milan; Adolfo Sebastiani; Ciro Costagliola; Francesco Parmeggiani
Journal:  Curr Genomics       Date:  2011-06       Impact factor: 2.236

8.  Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.

Authors:  Liping Yang; Xiaobei Yin; Lina Feng; Debo You; Lemeng Wu; Ningning Chen; Aijun Li; Genlin Li; Zhizhong Ma
Journal:  PLoS One       Date:  2014-01-15       Impact factor: 3.240
  8 in total

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