A family with X-linked optic atrophy linked to the OPA2 locus Xp11.4-Xp11.2

American Journal of Medical Genetics, Part A

Volumn 140, Issue 20, 2006, Pages 2207-2211

  Katz, Bradley J ^a,b   Zhao, Yu ^a   Warner, Judith E A ^a,b   Tong, Zongzhong ^a   Yang, Zhenglin ^a   Zhang, Kang ^a  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF UTAH HEALTH SCIENCES CENTER   (United States)

Author keywords

Charcot Marie Tooth; Dynamins; Mitochondria; Mitofusin 2; OPA1; OPA2; OPA3; OPA4; X linked

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT OPTIC ATROPHY; CENTRAL SCOTOMA; CHROMOSOME XP; CLINICAL ARTICLE; CLINICAL FEATURE; COLOR VISION DEFECT; COLOR VISION TEST; DISEASE ASSOCIATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EYE FUNDUS; EYE PHOTOGRAPHY; FAMILIAL DISEASE; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE LOCUS; GENETIC LINKAGE; GENETIC MARKER; GENOTYPE; GLAUCOMA; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITARY OPTIC ATROPHY; HUMAN; ISCHEMIC OPTIC NEUROPATHY; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; OPA2 GENE; OPTIC NERVE; PALLOR; PERIMETRY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; VISUAL ACUITY; VISUAL FIELD DEFECT; VISUAL IMPAIRMENT; X CHROMOSOME LINKED DISORDER; X LINKED OPTIC ATROPHY; XLOA GENE;

CHROMOSOMES, HUMAN, X; FEMALE; GENETIC DISEASES, X-LINKED; GENETIC MARKERS; HUMANS; MALE; OPTIC ATROPHY, AUTOSOMAL DOMINANT; PEDIGREE; TANDEM REPEAT SEQUENCES;

EID: 33749472567     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31455     Document Type: Article

References (24)

1. Anikster Y, Kleta R, Shaag A, Gahl WA, Elpeleg O. 2001. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet 69:1218-1224.
2. Assink JJ, Tijmes NT, ten Brink JB, Oostra RJ, Riemslag FC, de Jong PT, Bergen AA. 1997. A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome. Am J Hum Genet 61:934-939.
3. Brown J Jr, Fingert JH, Taylor CM, Lake M, Sheffield VC, Stone EM. 1997. Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1). Arch Ophthalmol 115:95-99.
4. Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. 2000. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet 26:207-210.
5. Delettre C, Griffoin JM, Kaplan J, Dollfus H, Lorenz B, Faivre L, Lenaers G, Belenguer P, Hamel CP. 2001. Mutation spectrum and splicing variants in the OPA1 gene. Hum Genet 109:584-591.
6. Hoyt CS. 1980. Autosomal dominant optic atrophy. A spectrum of disability. Ophthalmology 87:245-251.
7. Jensen PK. 1981. Nerve deafness: Optic nerve atrophy, and dementia: A new X-linked recessive syndrome? Am J Med Genet 9:55-60.
8. Jensen PK, Reske-Nielsen E, Hein-Sorensen O, Warburg M. 1987. The syndrome of opticoacoustic nerve atrophy with dementia. Am J Med Genet 28:517-518.
9. Kerrison JB. Arnould VJ, Ferraz Sallum JM, Vagefi MR, Barmada MM, Li Y, Zhu D, Maumenee IH. 1999. Genetic heterogeneity of dominant optic atrophy, Kjer type: Identification of a second locus on chromosome 18q12.2-12.3. Arch Ophthalmol 117:805-810.
10. Kim JY, Hwang JM, Ko HS, Seong MW, Park BJ, Park SS. 2005. Mitochondrial DNA content is decreased in autosomal dominant optic atrophy. Neurology 64:966-972.
11. Kjer B, Eiberg H, Kjer P, Rosenberg T. 1996. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand 74:3-7.
12. Lathrop GM, Lalouel JM, Julier C, Ott J. 1985. Multilocus linkage analysis in humans: Detection of linkage and estimation of recombination. Am J Hum Genet 37:482-498.
13. Li C, Kosmorsky G, Zhang K, Katz BJ, Ge J, Traboulsi EI. 2005. Optic atrophy, progressive sensorineural hearing loss and myopia caused by an R445H OPA1 mutation. Am J Med Genet Part A 138A:208-211.
14. Lysen JC, Oliver CP. 1947. Four generations of blindness. Bull Dightlnst 5:20-25.
15. Newman NJ. 2002. From genotype to phenotype in Leber hereditary optic neuropathy: Still more questions than answers. J Neuroophthalmol 22:257-261.
16. O'Connell JR, Weeks DE. 1995. The VITESSE algorithm for rapid exact multilocus linkage analysis via genotype set-recoding and fuzzy inheritance. Nat Genet 11:402-408.
17. Olichon A. Emorine LJ, Descoins E, Pelloquin L, Brichese L, Gas N, Guillou E, Delettre C, Valette A, Hamel CP, Ducommun B, Lenaers G, Belenguer P. 2002. The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett 523:171-176.
18. Ott J. 1999. Analysis of human genetic linkage. Baltimore: Johns Hopkins University Press.
19. Payne M, Yang Z, Katz BJ, Warner JE, Weight CJ, Zhao Y, Pearson ED, Treft RL, Hillman T, Kennedy RJ, Meire FM, Zhang K. 2004. Dominant optic atrophy, sensorineural hearing loss, ptosis, and ophthalmoplegia: A syndrome caused by a missense mutation in OPA1. Am J Ophthalmol 138:749-755.
20. Rosenberg RN, Chutorian A. 1967. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 17:827-832.
21. Shaw JM, Nunnari J. 2002. Mitochondrial dynamics and division in budding yeast. Trends Cell Biol 12:178-184.
22. Volker-Dieben HJ, Went LN, de Vries-de Mol EC. 1974. Comparative colour vision and other ophthalmological studies in three families with dominant inherited juvenile optic atrophy. Mod Probl Ophthalmol 13:277-281.
23. Went LN, De Vries-De Mol EC, Volker-Dieben HJ. 1975. A family with apparently sex-linked optic atrophy. J Med Genet 12:94-98.
24. Zuchner S, Dejonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM. 2006. Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 59:276-281.