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Original Paper

CYP4V2 Mutations in Two Japanese Patients with Bietti’s Crystalline Dystrophy

Gekka T. · Hayashi T. · Takeuchi T. · Goto-Omoto S. · Kitahara K.

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Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan

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Ophthalmic Res 2005;37:262–269

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 06, 2005
Accepted: May 13, 2005
Published online: September 15, 2005
Issue release date: September – October

Number of Print Pages: 8
Number of Figures: 6
Number of Tables: 0

ISSN: 0030-3747 (Print)
eISSN: 1423-0259 (Online)

For additional information: https://www.karger.com/ORE

Abstract

Bietti’s crystalline dystrophy (BCD) is an autosomal-recessive retinal dystrophy characterized by numerous glistening intraretinal dots scattered over the fundus, particularly in the posterior pole. The purpose of this study was to report mutations in the CYP4V2 gene (encoding a ubiquitously-expressed 525-amino acid sequence belonging to the CYP450 family) and to investigate the impact of the mutation on pre-mRNA splicing. DNA and RNA analyses were conducted using blood samples from two unrelated Japanese patients with BCD (a 46-year-old female and a 52-year-old male). In the female patient, a homozygous deletion/insertion mutation (g.IVS6–8_–1delc.802_810del/insGC) including the 3´-acceptor splice site was identified. Reverse transcription-PCR analysis revealed that the complete length of exon 7 (186 bp), is skipped, resulting in the in-frame deletion mutation (p.V268_E329del). Conversely, the male patient was a compound heterozygote for the deletion/insertion and novel nonsense (p.W340X) mutations. Clinically, the female patient had decreased visual acuity, constriction of visual fields, severely reduced amplitudes in both rod and cone electroretinograms (ERGs). Despite being 6 years older, the male patient presented with milder clinical manifestations having good visual acuity and substantial amplitudes in both rod and cone ERGs. Because the CYP4V2 truncated protein with the p.W340X mutation lacks 186 amino acids at the C-terminus, if expressed, it retains 62 amino acids encoded in exon 7, which are important for enzymatic activity. In the male patient, expression of both mutant alleles may compensate for the malfunction of each mutated protein and could explain why a milder form of BCD results from compound heterozygosity.

© 2005 S. Karger AG, Basel


References

  1. Bietti GB: İber familiäres Vorkommen von ‘retinitis punctata albescens’ (verbunden mit ‘dystrophia marginalis cristallinea corneae’), Glitzern des Glaskörpers und anderen degenerativen Augenveränderungen. Klin Monatsbl Augenheilkd 1937;99:737–756.
  2. Bagolini B, Ioli-Spada G: Bietti’s tapetoretinal degeneration with marginal corneal dystrophy. Am J Ophthalmol 1968;65:53–60.
  3. Welch RB: Bietti’s tapetoretinal degeneration with marginal corneal dystrophy crystalline retinopathy. Trans Am Ophthalmol Soc 1977;75:164–179.
  4. Francois J, De Laey JJ: Bietti’s crystalline fundus dystrophy. Ann Ophthalmol 1978;10:709–716.
  5. Grizzard WS, Deutman AF, Nijhuis F, de Kerk AA: Crystalline retinopathy. Am J Ophthalmol 1978;86:81–88.
  6. Mauldin WM, O’Connor PS: Crystalline retinopathy (Bietti’s tapetoretinal degeneration without marginal corneal dystrophy). Am J Ophthalmol 1981;92:640–646.
  7. Hayasaka S, Okuyama S: Crystalline retinopathy. Retina 1984;4:177–181.
  8. Yoshida A, Nara Y, Takahashi M: Crystalline retinopathy: evaluation of blood-retinal barrier by vitreous fluorophotometry. Jpn J Ophthalmol 1985;29:290–300.
  9. Yagasaki K, Miyake Y: Crystalline retinopathy. Nippon Ganka Gakkai Zasshi 1986;90:711–719.
  10. Yuzawa M, Mae Y, Matsui M: Bietti’s crystalline retinopathy. Ophthal Paediatr Genet 1986;7:9–20.
  11. Harrison RJ, Acheson RR, Dean-Hart JC: Bietti’s tapetoretinal degeneration with marginal corneal dystrophy (crystalline retinopathy): case report. Br J Ophthalmol 1987;71:220–223.
  12. Traboulsi EI, Faris BM: Crystalline retinopathy. Ann Ophthalmol 1987;19:156–158.
  13. Wilson DJ, Weleber RG, Klein ML, Welch RB, Green WR: Bietti’s crystalline dystrophy. A clinicopathologic correlative study. Arch Ophthalmol 1989;107:213–221.
  14. Morimoto N, Shiraga F, Matsuo N, Matsuo T, Hara K: A case of crystalline retinopathy with crystalline deposits in the cornea. Nippon Ganka Gakkai Zasshi 1990;94:321–327.
  15. Usui T, Tanimoto N, Takagi M, Hasegawa S, Abe H: Rod and cone a-waves in three cases of Bietti crystalline chorioretinal dystrophy. Am J Ophthalmol 2001;132:395–402.
  16. Mataftsi A, Zografos L, Milla E, Secretan M, Munier FL: Bietti’s crystalline corneoretinal dystrophy: a cross-sectional study. Retina 2004;24:416–426.
  17. Yanagi Y, Tamaki Y, Takahashi H, Sekine H, Mori M, Hirato T, Okajima O: Clinical and functional findings in crystalline retinopathy. Retina 2004;24:267–274.
  18. Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA: Clinical biochemical and pathologic correlations in Bietti’s crystalline dystrophy. Am J Ophthalmol 1994;118:569–582.
  19. Yamamoto S, Kataoka Y, Kamiyama M, Hayasaka S: Nondetectable S-cone electroretinogram in a patient with crystalline retinopathy. Doc Ophthalmol 1995;90:221–227.
  20. Bernauer W, Daicker B: Bietti’s corneal-retinal dystrophy. A 16-year progression. Retina 1992;12:18–20.
  21. Saatci AO, Yaman A, Oner FH, Ergin MH, Cingil G: Indocyanine green angiography in Bietti’s crystalline retinopathy. Can J Ophthalmol 2002;37:346–351.
  22. Ciardella AP, Yannuzzi LA, Borodoker N, Mendoza C: Crystalline retinopathy associated with retinal dialysis and chronic retinal detachment. Retina 2002;22:360–362.
  23. Meyer CH, Rodrigues EB, Mennel S, Schmidt JC: Optical coherence tomography in a case of Bietti’s crystalline dystrophy. Acta Ophthalmol Scand 2004;82:609–612.
  24. Jiao X, Munier FL, Iwata F, Hayakawa M, Kanai A, Lee J, Schorderet DF, Chen MS, Kaiser-Kupfer M, Hejtmancik JF: Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35. Am J Hum Genet 2000;67:1309–1313.
  25. Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF: Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet 2004;74:817–826.
  26. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Chader GJ: Identification, isolation, and characterization of a 32-kDa fatty acid-binding protein missing from lymphocytes in humans with Bietti crystalline dystrophy (BCD). Mol Genet Metab 1998;65:143–154.
  27. Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ: The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci 2001;42:1707–1714.
  28. Antonarakis SE: Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998;11:1–3.
  29. den Dunnen JT, Antonarakis SE: Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 2000;15:7–12.

Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: April 06, 2005
Accepted: May 13, 2005
Published online: September 15, 2005
Issue release date: September – October

Number of Print Pages: 8
Number of Figures: 6
Number of Tables: 0

ISSN: 0030-3747 (Print)
eISSN: 1423-0259 (Online)

For additional information: https://www.karger.com/ORE


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