Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation

Archives of Ophthalmology

Volumn 130, Issue 9, 2012, Pages 1184-1189

  Huang, Alex S ^a   Kim, Leo A ^a   Fawzi, Amani A ^a,b  

^a UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGE; AGED; ARTICLE; AUTOFLUORESCENCE; CARBOXY TERMINAL SEQUENCE; CHM GENE; CHOROIDEREMIA; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; FEMALE; GENE; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MALE; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PHENOTYPE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; SEX DIFFERENCE; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL IMPAIRMENT;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; CHOROIDEREMIA; CODON, NONSENSE; COLORING AGENTS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; INDOCYANINE GREEN; MALE; MIDDLE AGED; PEDIGREE; PHOTOGRAPHY; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 84866096561     PISSN: 00039950     EISSN: 15383601     Source Type: Journal    
DOI: 10.1001/archophthalmol.2012.1117     Document Type: Article

References (28)

1. Seabra MC, Mules EH, Hume AN. Rab GTPases, intracellular traffic and disease. Trends Mol Med. 2002;8(1):23-30. (Pubitemid 34044675)
2. MacDonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009;54(3):401-407.
3. van Bokhoven H, Schwartz M, Andréasson S, et al. Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients. Hum Mol Genet. 1994; 3(7):1047-1051.
4. Syed N, Smith JE, John SK, Seabra MC, Aguirre GD, Milam AH. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology. 2001;108(4):711-720. (Pubitemid 32238467)
5. Potter MJ, Wong E, Szabo SM, McTaggart KE. Clinical findings in a carrier of a new mutation in the choroideremia gene. Ophthalmology. 2004;111(10):1905-1909. (Pubitemid 39311845)
6. Pereira-Leal JB, Hume AN, Seabra MC. Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease. FEBS Lett. 2001;498(2-3): 197-200. (Pubitemid 32539202)
7. Alory C, Balch WE. Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease. Traffic. 2001;2(8):532-543. (Pubitemid 32725398)
8. Sergeev YV, Smaoui N, Sui R, et al. The functional effect of pathogenic mutations in Rab escort protein 1. Mutat Res. 2009;665(1-2):44-50.
9. van den Hurk JA, Hendriks W, van de Pol DJ, et al. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet. 1997;6(6):851-858.
10. van den Hurk JA, Schwartz M, van Bokhoven H, et al. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat. 1997;9(2):110-117.
11. Itabashi T, Wada Y, Kawamura M, Sato H, Tamai M. Clinical features of Japanese families with a 402delT or a 555-556delAG mutation in choroideremia gene. Retina. 2004;24(6):940-945.
12. Hayakawa M, Fujiki K, Hotta Y, et al. Visual impairment and REP-1 gene mutations in Japanese choroideremia patients. Ophthalmic Genet. 1999;20(2):107-115.
13. Renner AB, Fiebig BS, Cropp E, Weber BH, Kellner U. Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. Arch Ophthalmol. 2009;127(7):907-912.
14. Renner AB, Kellner U, Cropp E, et al. Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram. Ophthalmology. 2006;113(11):2066-2073, e1-e10.
15. Carrel L, Willard HF. Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. Proc Natl Acad Sci U S A. 1999;96(13):7364-7369.
16. Donnelly P, Menet H, Fouanon C, et al. Missense mutation in the choroideremia gene. Hum Mol Genet. 1994;3(6):1017. doi: 10.1093/hmg/3.6.1017.
17. Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol. 2007;125(8):1107-1113.
18. Rak A, Pylypenko O, Niculae A, Pyatkov K, Goody RS, Alexandrov K. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Cell. 2004;117(6):749-760.
19. Perez-Cano HJ, Garnica-Hayashi RE, Zenteno JC. CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia. Am J Med Genet A. 2009;149A(10):2134-2140.
20. Hatakeyama C, Anderson CL, Beever CL, Peñaherrera MS, Brown CJ, Robinson WP. The dynamics of X-inactivation skewing as women age. Clin Genet. 2004; 66(4):327-332.
21. Roberts MF, Fishman GA, Roberts DK, et al. Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia. Br J Ophthalmol. 2002;86(6):658-662.
22. Rudolph G, Preising MN, Kalpadakis P, Haritoglou C, Lang GE, Lorenz B. Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene. Ophthalmic Genet . 2003; 24(4):203-214.
23. Coussa R, Kim J, Traboulsi E. Choroideremia: A Meta Analysis of the Disease Course. Fort Lauderdale, FL: ARVO; 2011.
24. Tolmachova T, Anders R, Abrink M, et al. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest. 2006;116(2):386-394.
25. Bonilha VL, Trzupek KM, Li Y, et al. Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genet. 2008;29(3):99-110.
26. Flannery JG, Bird AC, Farber DB, Weleber RG, Bok D. A histopathologic study of a choroideremia carrier. Invest Ophthalmol Vis Sci. 1990;31(2):229-236.
27. Jacobson SG, Cideciyan AV, Sumaroka A, et al. Remodeling of the human retina in choroideremia: Rab escort protein 1 (REP-1) mutations. Invest Ophthalmol Vis Sci. 2006;47(9):4113-4120.
28. Hwang JC, Kim DY, Chou CL, Tsang SH. Fundus autofluorescence, optical coherence tomography, and electroretinogram findings in choroidal sclerosis. Retina. 2010;30(7):1095-1103.