The Pro347Leu mutation of the rodopsin gene in a Spanish family with autosomal dominant pigmentary retinosis;Mutación Pro347Leu del gen de la rodopsina en una familia española con retinosis pigmentaria autosómica dominante

Medicina Clinica

Volumn 110, Issue 13, 1998, Pages 501-504

  Trujillo, María José ^a   Del Río, Teresa ^b   Reig, Carlos ^c   Benítez, Javier ^a   Sandoval, Blanca García ^b   Carballo, Miguel ^c   Ayuso, Carmen ^a  

^a Fundacián Jiménez Díaz   (Spain)

^b H U Montepríncipe   (Spain)

^c HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

RHODOPSIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENETICS; HUMAN; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; RETINITIS PIGMENTOSA; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RETINITIS PIGMENTOSA; RHODOPSIN; SPAIN;

EID: 0032542819     PISSN: 00257753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (23)

1. Dryja TP, Li T. Molecular genetics of retinitis pigmentosa. Hum Mol Genet 1995; 4: 1.739-1.743.
2. Millán JM, Nájera C, Beneyto M. Genética molecular de la retinosis pigmentaria. Med Clin (Barc) 1994; 102. 30-32.
3. McInnes RR, Bascon RA. Retinal genetics: a nullifying effect for rhodopsin. Nat Genet 1992; 1: 155-156.
4. Dryja TP, Berson EL, Rao VR, Oprian DD. Heterozygous missense mutation in the rhodopsin genes cause of congenital stationary night blindness. Nat Genet 1993; 4: 280-283.
5. a ed.). Nueva York: Cold Spring Harbor Laboratory Press, 1989.
6. Nathans J, Hogness D. Isolation and nucleotide sequence of the gene encoding human rhodopsin. Proc Natl Acad Sci USA 1984; 81: 4.851-4.855.
7. Nathans J. Rhodopsin: structure, function and genetics. Biochemistry 1992; 31: 4.923-4.931.
8. Orita M, Suzuki Y, Sekiya T. Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874-879.
9. Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC et al. A compieted screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum Mol Genet 1992; 1: 41-45.
10. Bunge S, Wedemann H, David D, Terwilliger DJ, Van der Bron LI, Aulehla-Scholz C et al. Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa. Genomics 1993; 17: 230-233.
11. Fujiki K, Hotta Y, Hayakawa M, Sakuma H, Shiono T, Noro M et al. Point mutation of rhodopsin gene found in japanese family with autosomal dominant retinitis pigmentosa (ADRP). Jpn J Hum Genet 1992; 37: 125-132.
12. Millän JM. La retinosis pigmentaria en la Comunidad Valenciana: estudios epidemiolögicos y geréfica molecular de las forn as autosómico dominante y ligada al cromosoma X [Tesis dcctoral]. Universitat de Valeacia Facultat de Ciënc es Biològiques, 1995; 118
13. Dryja TP. Hahn LB, Cowley GS, McGee TL, Berson EL. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa Proc Natl Acad Sci USA 1991; 88: 9.370-9.374.
14. Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med 1990; 323: 1.302-1.307.
15. Gal A, Artlich A, Ludwig M, Niemeyer G, Olek K. Schwinger E et al. Prc347Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa. Genomics 1991; 11: 468-470.
16. Vaithinathan R, Berson EL, Dryja TP, Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. Genomics 1994; 21: 461-463.
17. Macke JP. Hennessey JH, Nathars J. Rhodopsin mutation proline 347 to alanine in a family with autosomal dominant retinitis pigmentosa indicates and important role for proline at position 347. Hum Mol Genet 1995; 4: 775-776.
18. Rodríguez JA, Herrera CA, Birch DDG, Heckenlively JR, Daiger SP, Rhodopsin mutations in patients with retinitis pigmentosa. Nueva Orleans: ASHG 43rd Annual Meeting, 5-9 de octubre de 1993.
19. Matthews BW, Nichelson H, B WJ. Enhaced protein thermostability site-directed mutations that decrease the y of unfolding. Proc Natl Acad Sci USA ; 84: 6.663-6.667.
20. Jacobson SG, Kemp CM, Sung ChH, Nathans J. Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations. Am J Ophthalmol 1991; 112: 256-271.
21. Sandberg MA, Weigel-DiFranco C, Dryja TP, Berson EL. Clinical expression correlates with location of rhodopsin mutation in dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 1995; 36 1.934-1.942.
22. Berson EL, Rosner B, Sandberg MA, Weibel-DiFranco C, Dryja TD. Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine. Am J Ophthalmol 1991; 111; 614-623.
23. Shastry BS. Retinitis pigmentosa and related disorders; phenotypes of rhodopsyn and peripherin/RDS mutations. Am J Med Genet 1994; 52: 467-474.