A novel KERA mutation associated with autosomal recessive cornea plana

Ophthalmic Genetics

Volumn 25, Issue 2, 2004, Pages 147-152

  Khan, Arif O ^a   Kambouris, Marios ^b,c,d  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Synergene Biotechnology Group   (Malta)

Author keywords

Autosomal recessive; Cornea plana; KERA mutation; Keratocan

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANTERIOR EYE CHAMBER; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOMETRY; CHILD; CLINICAL ARTICLE; CORNEA DISEASE; FLAT CORNEA; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; KERA GENE; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; STOP CODON; VISUAL SYSTEM EXAMINATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CORNEAL DISEASES; FEMALE; GENES, RECESSIVE; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; PEDIGREE; PROTEOGLYCANS; SIBLINGS;

RAPHIA FRATER;

EID: 6344260156     PISSN: 13816810     EISSN: None     Source Type: Journal    
DOI: 10.1080/13816810490514397     Document Type: Article

References (15)

1. Rubel B. Kongenitale familiare der Kornea. Klin Monastsbl Augenheilkd. 1912;50:427-433.
2. Felix CH. Congenitale familiaere Cornea plana. Klin Monastsbl Augenheilkd. 1925;74:710-716.
3. Forsius, H. Studien ueber Cornea plana congenita bei 19 Kranken in 9 Familien. Acta Ophthalmol. 1961;39:203-221.
4. Forsius HR, Eriksson AW, Lehmann W. Cornea plana congenita. In: Eriksson AW, Forsius HR, Nevanlinna HR, et al. Population Structure and Genetic Disorders. New York: Academic Press, 1980:605-609.
5. Larsen V, Eriksson AW. Cornea plana. Acta Ophthalmol. 1949;27:275-286.
6. Sigler-Villaneuva A, Tahvanainen E, Lindh S, et al. Autosomal dominant cornea plana: clinical findings in a Cuban family and a review of the literature. Ophthal Genet. 1997;18(2):55-62.
7. Eriksson AW, Lehmann W, Forsius H. Congenital cornea plana in Finland. Clin Genet. 1973;4:301-310.
8. Tahvanainen E, Villanueva AS, Forsius H, et al. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res. 1996;6(4):249-254.
9. Pellegata NS, Dieguez-Lucena JL, Joensuu T, et al. Mutations in KERA, encoding keratocan, cause cornea plana. Nature Genet. 2000;25:91-95.
10. Lehmann OJ, El-Ashry MF, Ebenezer N, et al. A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthalmol Vis Sci. 2001;42(13):3118-3122.
11. Tasheva ES, Funderburgh JL, Funderburgh ML, et al. Structure and sequence of the gene encoding human keratocan. DNA Seq. 1999;10(1):67-74.
12. Iozzo RV. The biology of the small leucine-rich proteoglycans. J Biol Chem. 1999;274(27):18843-18846.
13. Liu CY, Birk DE, Hassell JR, et al. Keratocan-deficient mice display alterations in corneal structure. J Biol Chem. 2003;287(24): 21672-21677.
14. Karesh JW. Topographical anatomy of the eye: an overview. In: Tasman W, Jaeger EA eds. Duane's Clinical Ophthalmology on CD-ROM Foundations. Chapter I. Philadelphia: Lippincott Williams & Wilkins, 2003.
15. Forsius H, Damsten M, Eriksson AW, et al. Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol Scand. 1998;76:196-203.