CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

BMC Genetics

Volumn 3, Issue , 2002, Pages

  Engle, Elizabeth C ^a,b   McIntosh, Nathalie ^a   Yamada, Koki ^a,b   Lee, Bjorn A ^a   Johnson, Roger ^c   O'Keefe, Michael ^d   Letson, Robert ^e   London, Arnold ^f   Ballard, Evan ^g   Ruttum, Mark ^h   Matsumoto, Naomichi ⁱ   Saito, Nakamichi ^j   Collins, Mary Louise Z ^k   Morris, Lisa ^l   Del Monte, Monte ^l   Magli, Adriano ^m   de Berardinis, Teresa ^m  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^d Children s Health Ireland   (Ireland)

^e UNIVERSITY OF MINNESOTA   (United States)

^f Aspen Medical Group   (United States)

^g Medical College of Wisconsin ^*  (United States)

^h MEDICAL COLLEGE OF WISCONSIN   (United States)

ⁱ NAGASAKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^j SAISEIKAI FUKUOKA GENERAL HOSPITAL   (Japan)

^k JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l UNIVERSITY OF MICHIGAN   (United States)

^m UNIVERSITY OF NAPLES FEDERICO II   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 12; CONTROLLED STUDY; EXTRAOCULAR MUSCLE; FAMILIAL DISEASE; FAMILY STUDY; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; OPHTHALMOPLEGIA; PEDIGREE ANALYSIS; PHENOTYPE; FEMALE; FIBROSIS; GENETIC VARIABILITY; GENETICS; HAPLOTYPE; MALE; MUTATION; PATHOLOGY; PEDIGREE;

HOMEODOMAIN PROTEIN; PHOX2A PROTEIN, HUMAN;

FEMALE; FIBROSIS; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA; PEDIGREE; PHENOTYPE; VARIATION (GENETICS);

EID: 18744378900     PISSN: 14712156     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2156-3-3     Document Type: Article

References (28)

1. Brown HW: Congenital structural muscle anomalies. In: Strabismus Ophthalmic Symposium. 1950205-236
2. Hotchkiss MG, Miller NR, Clark AW, Green WG: Bilateral Duane's retraction syndrome: A clinical-pathological case report. Arch Ophth 1980, 98:870-874
3. Miller NR, Kiel SM, Green WR, Clark AW: Unilateral Duane's retraction syndrome (type 1). Arch Ophth 1982, 100:1468-1472
4. Engle EC, Goumernov B, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH: Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Annals of Neurology 1997, 41:314-325
5. Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC: Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet 2001, 29:315-320
6. Engle EC, Kunkel LM, Specht LA, Beggs AH: Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nature Genetics 1994, 7:69-73
7. Doherty E, Macy M, Wang S, Dykeman C, Melanson M, Engle E: CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Investigative Ophthalmology and Visual Science 1999, 40:1687-1694
8. Wang S, Zwaan J, Mullaney P, Jabak M, Al-Awad A, Beggs A, Engle E: Congenital fibrosis of the extraocular muscles type 2 (CFEOM2), an inherited exotropic strabismus fixus, maps to distal 11q13. American Journal of Human Genetics 1998, 63:517-525
9. Baumgarten M: Erfahrungen uber den strabismus und die Muskeldurchschneidung am Auge in physiologischpathologischer und therapeutischer Beziehung. Monatsschr Med Augenheilkd Chir 1840, 3:474-499
10. Heuck G: Ueber angeborenen vererbten Beweglichkeits - Defect der Augen. Klin Monatsbl Augenheilkd 1879, 17:253-278
11. Black G, Perveen R, Hatchwell E, Reck A, Clayton-Smith J: Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia. Journal of Medical Genetics 1998, 35:985-988
12. Bradburn AA: Hereditary ophthalmoplegia in five generations. Trans Ophthalmol Soc 1912, 32:142-153
13. Catford GV: A familial musculo-fascial anomaly. Trans Ophthal Soc UK 1966, 86:19-36
14. Cibis GW: Congenital familial external ophthalmoplegia with co-contraction. Ophthalmic Paediatrics and Genetics 1984, 4:163-168
15. Engle EC, Marondel I, Houtman WA, de Vries B, Lowenstein A, Lazar M, Ward DC, Kucherlapati R, Beggs AH: Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. American Journal of Human Genetics 1995, 57:1086-1094
16. Harley RD, Rodrigues MM, Crawford JS: Congenital fibrosis of the extraocular muscles. Journal of Pediatric Ophthalmology and Strabismus 1978, 15:346-358
17. Houtman WA, vanWeerden TW, Robinson PH, deVries B, Hoogenraad TU: Hereditary congenital external ophthalmoplegia. Ophthalmologica 1986, 193:207-218
18. Laughlin RC: Congenital fibrosis of the extraocular muscles; a report of six cases. Am J Ophthalmology 1956, 41:432-438
19. Lees F: Congenital static familial ophthalmoplegia. J Neurol Neurosurg Psychiatry 1960, 23:46-51
20. McKusick VA: Mendelian inheritance in man: catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 1990
21. Traboulsi E, Jaafar M, Kattan H, Parks M: Congenital fibrosis of the extraocular muscles: Report of 24 cases illustrating the clinical spectrum and surgical management. American Orthoptic Journal 1993, 43:45-53
22. Guo S, Brush J, Teraoka H, Goddard A, Wilson SW, Mullins MC, Rosenthal A: Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron 1999, 24:555-566
23. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF: Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 1997, 124:4065-4075
24. Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC: New clinical variation of a fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophth 2000, 118:1090-1097
25. Flaherty MP, Grattan-Smith P, Steinberg A, Jamieson R, Engle EC: Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology 2001, 108:1313-1322
26. Hart B, Carlow T, Engle E: Congenital fibrosis of the extraocular muscles type 1: MRI and clinical findings. In: Proceedings of the American Society of Neuroradiology, 38th Annual Meeting; Atlanta. 2000317
27. Cottingham RW Jr, Idury RM, Schäffer AA: Faster Sequential Genetic Linkage Computations. American Journal of Human Genetics 1993, 53:252-263
28. Ott J: Analysis of Human Genetic Linkage, Rev. ed. edn. 1991