Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3)

Investigative Ophthalmology and Visual Science

Volumn 45, Issue 7, 2004, Pages 2218-2223

  Yamada, Koki ^a,b   Chan, Wai Man ^b   Andrews, Caroline ^a,b   Bosley, Thomas M ^c   Sener, Emin C ^d   Zwaan, Johan T ^e   Mullaney, Paul B ^f   Öztürk, Banu T ^d   Akarsu, A Nurten ^g   Sabol, Louise J ^h   Demer, Joseph L ⁱ   Sullivan, Timothy J ^j   Gottlob, Irene ^k   Roggenkäemper, Peter ^l   Mackey, David A ^m   De Uzcategui, Clara E ⁿ   Uzcategui, Nicolas ^o   Ben Zeev, Bruria ^p   Traboulsi, Elias I ^q   Magli, Adriano ^r   De Berardinis, Teresa ^r   Gagliardi, Vincenzo ^r   Awasthi Patney, Sudha ^s   Vogel, Marlene C ^t   Rizzo III, Joseph F ^u   Engle, Elizabeth C ^a,b   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^d GÜVEN HOSPITAL   (Turkey)

^e UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^f SLIGO UNIVERSITY HOSPITAL   (Ireland)

^g HACETTEPE UNIVERSITY   (Turkey)

^h GEISINGER MEDICAL CENTER   (United States)

ⁱ UNIVERSITY OF CALIFORNIA   (United States)

^j UNIVERSITY OF QUEENSLAND   (Australia)

^k UNIVERSITY OF LEICESTER   (United Kingdom)

^l UNIVERSITY HOSPITAL BONN   (Germany)

^m UNIVERSITY OF MELBOURNE   (Australia)

ⁿ Inst de Otorrinolaringología   (Venezuela)

^o UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^p TEL AVIV UNIVERSITY   (Israel)

^q LERNER RESEARCH INSTITUTE   (United States)

^r UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^s JKA Institute of Strabismology   (India)

^t HOSPITAL ROBERTO DEL RÍO   (Chile)

^u MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLE TYPE 3; EXTRAOCULAR MUSCLE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; HUMAN; KIF21A GENE; OCULAR FIBROSIS; OPHTHALMOPLEGIA; PEDIGREE ANALYSIS; PHENOTYPE; PHOX2A GENE; PRIORITY JOURNAL; STRABISMUS;

DNA MUTATIONAL ANALYSIS; FEMALE; FIBROSIS; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; KINESIN; LINKAGE (GENETICS); MALE; MUTATION; NERVE TISSUE PROTEINS; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 3142654134     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.03-1413     Document Type: Article

References (17)

1. Gutowski NJ, Bosley TM, Engle EC. 110th ENMC International Workshop: The congenital cranial dysinnervation disorders (CCDDs). Naarden, The Netherlands, 25-27 October, 2002. Neuromuscul Disord. 2003;13:573-578.
2. Engle EC, Goumernov B, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol. 1997;41:314-325.
3. 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. Nat Genet. 1994;7:69-73.
4. Engle EC, Marondel I, Houtman WA, et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12. Am J Hum Genet. 1995;57:1086-1094.
5. Engle EC, McIntosh N, Yamada K, et al. CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. BMC Genet. 2002;3:3.
6. Uyama E, Yamada K, Kawano H, et al. A Japanese family with FEOM1-linked congenital fibrosis of the extraocular muscles type 1 (CFEOM1) associated with spinal canal stenosis and refinement of the FEOM1 critical region. Neuromuscul Disord. 2003;13:472-478.
7. Yamada K, Andrews C, Chan WM, et al. Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1). Nat Genet. 2003;35:318-321.
8. Marszalek JR, Weiner JA, Farlow SJ, Chun J, Goldstein LS. Novel dendritic kinesin sorting identified by different process targeting of two related kinesins: KIF21A and KIF21B. J Cell Biol. 1999;145:469-479.
9. Wang SM, Zwaan J, Mullaney PB, et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet. 1998;63:517-525.
10. Nakano M, Yamada K, Fain J, et al. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nat Genet. 2001;29:315-320.
11. Yazdani A, Chung DC, Abbaszadegan MR, et al. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Am J Ophthalmol. 2003;136:861-865.
12. 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.
13. Guo S, Brush J, Teraoka H, et al. Development of noradrenergic neurons in the zebrafish hindbrain requires BMP, FGF8, and the homeodomain protein soulless/Phox2a. Neuron. 1999;24:555-566.
14. Mackey DA, Chan WM, Chan C, et al. Congenital fibrosis of the vertically acting extraocular muscles maps to the FEOM3 locus. Hum Genet. 2002;110:510-512.
15. Gillies W, Harris A, Brooks A, Rivers M, Wolfe R. Congenital fibrosis of the vertically acting extraocular muscles: a new group of dominantly inherited ocular fibrosis with radiologic findings. Ophthalmology. 1995;102:607-612.
16. 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. Invest Ophthalmol Vis Sci. 1999;40:1687-1694.
17. Sener EC, Lee BA, Turgut B, Akarsu AN, Engle EC. A clinically variant fibrosis syndrome in a Turkish family maps to the CFEOM1 locus on chromosome 12. Arch Ophthalmol. 2000;118:1090-1097.