KIF21A variant R954W in familial or sporadic cases of CFEOM1

European Journal of Ophthalmology

Volumn 19, Issue 4, 2009, Pages 667-674

  Rudolph, Guenther ^a   Nentwich, Michael ^a   Hellerbrand, Heide ^b   Pollack, Katharina ^c   Gordes, Roswitha ^d   Bau, Viktoria ^e   Kampik, Anselm ^a   Meindl, Alfons ^b  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^d UNIVERSITY MEDICAL CENTER GÖTTINGEN   (Germany)

^e MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

Author keywords

CFEOM; Congenital cranial dysinnervation disorders; Congenital fibrosis syndrome of the extraocular muscles; KIF21A

Indexed keywords

DNA; KINESIN; PROTEIN KIF21A; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 16; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES TYPE 1; CONTROLLED STUDY; EYE DISEASE; EYE EXAMINATION; EYE MOVEMENT DISORDER; FAMILIAL DISEASE; FEMALE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GERMANY; HERPES SIMPLEX; HUMAN; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; OCULOMOTOR NERVE; OPHTHALMOPLEGIA; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PTOSIS;

ADULT; BLEPHAROPTOSIS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROSIS; GENETIC LINKAGE; HAPLOTYPES; HUMANS; KINESIN; MALE; MUTATION; OCULOMOTOR MUSCLES; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; PEDIGREE;

EID: 70549089870     PISSN: 11206721     EISSN: None     Source Type: Journal    
DOI: 10.1177/112067210901900423     Document Type: Article

References (23)

1. Heuck G. Ueber angeborenen vererbten Beweglichkeits-Defekt der Augen. Klin Monatsbl Augenheilkd 1879; 17: 253-78.
2. Lim KH, Engle E, Demer JI. Abnormalities of the oculomotor nerve in congenital fibrosis of the extraocular muscles and congenital oculomotor palsy. Invest Ophthalmol Vis Sci 2007; 48: 1601-6.
3. Brodsky MC, Pollock SC, Buckley EG. Neural misdirection in congenital ocular fibrosis syndrome: Implications and pathogenesis. J Pediatr Ophthalmol Strabismus 1989; 26: 159-61.
4. Engle EC, Goumnerov BC, McKeown CA, et al. Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Ann Neurol 1997; 41: 314-25.
5. Traboulsi E. Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Trans Am Ophthalmol Soc 2004; 102: 373-89.
6. Engle EC. Applications of molecular genetics to the understanding of congenital ocular motility disorders. Ann NY Acad Sci 2002; 956: 55-63.
7. Engle EC, Kunkel LM, Specht LA, et al. Mapping a gene for congenital fibrosis of the extraocular muscles to centromeric region of chromosome 12. Nat Genet 1994; 7: 69-73.
8. Engle CE, 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: 1086-94.
9. 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: 318-21.
10. Reck AC, Manners R, Hatchwell E. Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles. Br J Ophthalmol 1998; 82: 676-9.
11. Tiab L, Manzi V, Borruat FX, Munier F, Schorderet D. Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients. Ophthalmic Genet 2004; 25: 241-6.
12. Lin L-K, Chien YH, et al. KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3. Mol Vis 2005; 11: 245-8.
13. Chan W, Andrews C, et al. Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1. BMC Genet 2007; 8: 26.
14. Hanisch F, Bau V, Zierz S. Die kongenitale Fibrose der äusseren Augenmuskeln (CFEOM) und andere Phänotypen der kongenitalen Dysinnervationssyndrome (CCDD). Nervenarzt 2005; 76: 395-402.
15. Pieh C, Lagreze W. A Angeborene Fehlinnervationssyndrome. Ophthalmologe 2007; 104: 1083-96.
16. Gottlob I, Jain S, Engle EC. Elevation of one eye during tooth brushing. Am J Ophthalmol 2002; 134: 459-60.
17. Pieh C, Goebel H, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Arch Clin Exp Ophthalmol 2003; 241: 546-53.
18. Flaherty MP, Grattan-Smith P, Steinberg A, Janieson R, Engle EC. Congenital fibrosis of the extraocular muscles associated with cortical dysplasia and maldevelopment of the basal ganglia. Ophthalmology 2001; 108: 1313-22.
19. Yoshida K, Okani T, et al. Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia. Am J Med Genet 2007; 143A: 1494-501.
20. Doherty EJ, Macy ME, Wang SM, et al. CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3. Invest Ophthalmol Vis Sci 1999; 40: 1687-94.
21. Zhao LS, Zhao K, Li N, Larson C. Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3. Arch Ophthalmol 2008; 126: 388-94.
22. Yamada K, Hunter DG, Andrews C, Engle EC. A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus-Gunn jaw-winking phenomenon. Arch Ophthalmol 2005; 123: 1254-9.
23. Büttner-Ennever J. A The extraocular motor nuclei: organization and functional neuroanatomy. Prog Brain Res 2006; 151: 95-125.