Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma

Molecular Vision

Volumn 16, Issue , 2010, Pages 1162-1168

  Ali, Manir ^a   Buentello Volante, Beatriz ^b   McKibbin, Martin ^a   Rocha Medina, J Alberto ^b   Fernandez Fuentes, Narcis ^a   Koga Nakamura, Wilson ^b   Ashiq, Aruna ^a,c   Khan, Kamron ^a   Booth, Adam P ^d   Williams, Grange ^a   Raashid, Yasmin ^e   Jafri, Hussain ^f   Rice, Aine ^a   Inglehearn, Chris F ^a   Zenteno, Juan Carlos ^b,g  

^a ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^b INSTITUTE OF OPHTHALMOLOGY CONDE DE VALENCIANA   (Mexico)

^c MANCHESTER ROYAL EYE HOSPITAL   (United Kingdom)

^d PENINSULA MEDICAL SCHOOL   (United Kingdom)

^e KING EDWARD MEDICAL UNIVERSITY   (Pakistan)

^f Gene Tech Lab 146/1   (Pakistan)

^g UNIVERSIDAD NACIONAL AUTÓNOMA DE MÉXICO   (Mexico)

Author keywords

[No Author keywords available]

Indexed keywords

FORKHEAD BOX E3 PROTEIN; FORKHEAD TRANSCRIPTION FACTOR; GENOMIC DNA; UNCLASSIFIED DRUG;

ADULT; ANTERIOR EYE SEGMENT; APHAKIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 1P; CLINICAL ARTICLE; CLINICAL FEATURE; COLOBOMA; CONTROLLED STUDY; ECHOGRAPHY; ENVIRONMENTAL FACTOR; EYE EXAMINATION; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC CONSERVATION; GENETIC LINKAGE; GENETIC RISK; HOMOZYGOTE; HUMAN; MALE; MEXICO; MICROPHTHALMIA; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC DISK ANOMALY; PAKISTAN; PEDIGREE ANALYSIS; POLYMORPHIC LOCUS; PRIORITY JOURNAL; SCHOOL CHILD; SCLERA DISEASE; SCLEROCORNEA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM;

AMINO ACID SEQUENCE; APHAKIA; BASE SEQUENCE; COLOBOMA; CORNEA; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; HOMOZYGOTE; HUMANS; MALE; MEXICO; MICROPHTHALMOS; MOLECULAR SEQUENCE DATA; MUTATION; OPTIC DISK; PAKISTAN; PEDIGREE; SYNDROME;

EID: 77955643791     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Elliott JH, Feman SS, O'Day DM, Garber M. Hereditary sclerocornea. Arch Ophthalmol 1985; 103:676-9.
2. Bahn CF, Falls HF, Varley GA, Meyer RF, Edelhauser HF, Bourne WM. Classification of corneal endothelial disorders based on neural crest origin. Ophthalmology 1984; 91:558-63.
3. Beauchamp GR, Knepper PA. Role of the neural crest in anterior segment development and disease. J Pediatr Ophthalmol Strabismus 1984; 21:209-14.
4. Semina EV, Brownell I, Mintz-Hittner HA, Murray JC, Jamrich M. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet 2001; 10:231-6.
5. Valleix S, Niel F, Nedelec B, Algros MP, Schwartz C, Delbosc B, Delpech M, Kantelip B. Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humans. Am J Hum Genet 2006; 79:358-64.
6. Iseri SU, Osborne RJ, Farrall M, Wyatt AW, Mirza G, Nürnberg G, Kluck C, Herbert H, Martin A, Hussain MS, Collin JR, Lathrop M, Nürnberg P, Ragoussis J, Ragge NK. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies. Hum Mutat 2009; 30:1378-86.
7. Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. FOXE3 plays a significant role in autosomal recessive microphthalmia. Am J Med Genet A 2010; 152A:582-90.
8. Ormestad M, Blixt A, Churchill A, Martinsson T, Enerbäck S, Carlsson P. Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. Invest Ophthalmol Vis Sci 2002; 43:1350-7.
9. Voronina VA, Kozhemyakina EA, O'Kernick CM, Kahn ND, Wenger SL, Linberg JV, Schneider AS, Mathers PH. Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea. Hum Mol Genet 2004; 13:315-22.
10. Happle R, Daniëls O, Koopman RJ. MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an Xlinked phenotype distinct from Goltz syndrome. Am J Med Genet 1993; 47:710-3.
11. Binenbaum G, McDonald-McGinn DM, Zackai EH, Walker BM, Coleman K, Mach AM, Adam M, Manning M, Alcorn DM, Zabel C, Anderson DR, Forbes BJ. Sclerocornea associated with the chromosome 22q11.2 deletion syndrome. Am J Med Genet A 2008; 146:904-9.
12. Moriarty AP, Kerr-Muir MG. Sclerocornea and interstitial deletion of the short arm of chromosome 6-(46XY del [6] [p22 p24]). J Pediatr Ophthalmol Strabismus 1992; 29:177-9.
13. Fernandez-Fuentes N, Rai BK, Madrid-Aliste CJ, Fajardo JE, Fiser A. Comparative protein structure modeling by combining multiple templates and optimizing sequence-tostructure alignments. Bioinformatics 2007; 23:2558-65.
14. van Dongen MJ, Cederberg A, Carlsson P, Enerbäck S, Wikström M. Solution structure and dynamics of the DNAbinding domain of the adipocyte-transcription factor FREAC-11. J Mol Biol 2000; 296:351-9.
15. Jin C, Marsden I, Chen X, Liao X. Dynamic DNA contacts observed in the NMR structure of winged helix protein-DNA complex. J Mol Biol 1999; 289:683-90.
16. Baker D, Sali A. Protein structure prediction and structural genomics. Science 2001; 294:93-6.
17. Sippl MJ. Recognition of errors in three-dimensional structures of proteins. Proteins 1993; 17:355-62.
18. Laskowski RA, MacArthur MW, Moss DS, Thornton JM. PROCHECK: a program to check the sterochemical quality of protein structures. J Appl Cryst 1993; 26:283-91.
19. Blixt A, Mahlapuu M, Aitola M, Pelto-Huikko M, Enerbäck S, Carlsson P. A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens vesicle. Genes Dev 2000; 14:245-54.
20. Brownell I, Dirksen M, Jamrich M. Forkhead Foxe3 maps to the dysgenetic lens locus and is critical in lens development and differentiation. Genesis 2000; 27:81-93.
21. Medina-Martinez O, Brownell I, Amaya-Manzanares F, Hu Q, Behringer RR, Jamrich M. Severe defects in proliferation and differentiation of lens cells in Foxe3 null mice. Mol Cell Biol 2005; 25:8854-63.