Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2

Ophthalmic Genetics

Volumn 28, Issue 2, 2007, Pages 57-67

  Aldave, Anthony J ^a   Sonmez, Baris ^a   Bourla, Nirit ^a   Schultz, Gerald ^b   Papp, Jeanette C ^c   Salem, Andrew K ^a   Rayner, Sylvia A ^a   Yellore, Vivek S ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

^b Schultz Eye Clinic   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DECORIN; DERMATAN SULFATE DERIVATIVE; DERMATAN SULFATE PROTEOGLYCAN 3; KERATOCAN; LUMICAN; PAIRED LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2; PROTEOGLYCAN; TRANSCRIPTION FACTOR FOXC1; UNCLASSIFIED DRUG;

ADHESION; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CHROMOSOME 12; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DISEASE; DNA ISOLATION; EYE REFRACTION; FLAT CORNEA; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPERMETROPIA; IRIDOCORNEAL ADHESION; IRIS ATROPHY; KERATOMETRY; LINKAGE ANALYSIS; MICROCORNEA; MICROSATELLITE MARKER; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PUPIL DISEASE; SINGLE NUCLEOTIDE POLYMORPHISM; SLIT LAMP; STRABISMUS;

ADULT; CHILD; CHILD, PRESCHOOL; CORNEA; CORNEAL DISEASES; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENES, DOMINANT; HOMEODOMAIN PROTEINS; HUMANS; KERATAN SULFATE; LINKAGE (GENETICS); MALE; MICROSATELLITE REPEATS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEOCHONDROITIN SULFATES; PROTEOGLYCANS; TRANSCRIPTION FACTORS;

EID: 34250202927     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810701351321     Document Type: Article

References (22)

1. Tahvanainen E, Forsius H, Damsten M, et al. Linkage disequilibrium mapping of the cornea plana congenital gene CNA2. Genomics. 1995;30(3):409-414.
2. Tahvanainen E, Villanueva AS, Forsius H, Salo P, de la Chapelle A. Dominantly and recessively inherited cornea plana congenita map to the same small region of chromosome 12. Genome Res. 1996;6(4):249-254.
3. Tocyap ML, Azar N, Chen T, Wiggs J. Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. Am J Ophthalmol. 2006;141(3):566-567.
4. Pellegata NS, Dieguez-Lucena JL, Joensuu T, et al. Mutations in KERA, encoding keratocan, cause cornea plana. Nat Genet. 2000;25(1):91-95.
5. Khan AO, Aldahmesh M, Al-Saif A, Meyer B. Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. Br J Ophthalmol. 2005;89(11):1538-1540.
6. Khan A, Al-Saif A, Kambouris M. A novel KERA mutation associated with autosomal recessive cornea plana. Ophthalmic Genet. 2004;25(2):147-152.
7. Lehmann OJ, El-ashry MF, Ebenezer ND, et al. A novel keratocan mutation causing autosomal recessive cornea plana. Invest Ophthalmol Vis Sci. 2001;42(13):3118-3122.
8. Khan AO, Aldahmesh M, Meyer B. Recessive cornea plana in the Kingdom of Saudi Arabia. Ophthalmology. 2006;113(10):1773-1778.
9. Tahvanainen E, Forsius H, Kolehmainen J, Damsten M, Fellman J, de la Chapelle A. The genetics of cornea plana congenita. J Med Genet. 1996;33(2):116-119.
10. Chakravarti S, Magnuson T, Lass JH, Jepsen KJ, LaMantia C, Carroll H. Lumican regulates collagen fibril assembly: Skin fragility and corneal opacity in the absence of lumican. J Cell Biol. 1998;141(5):1277-1286.
11. Song J, Lee YG, Houston J, et al. Neonatal corneal stromal development in the normal and lumican-deficient mouse. Invest Ophthalmol Vis Sci. 2003;44(2):548-557.
12. Bredrup C, Knappskog PM, Majewski J, Rodahl E, Boman H. Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Invest Ophthalmol Vis Sci. 2005;46(2):420-426.
13. Ebenezer ND, Patel CB, Hariprasad SM, et al. Clinical and molecular characterization of a family with autosomal recessive cornea plana. Arch Ophthalmol. 2005;123(9):1248-1253.
14. Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet. 1998;63(5):1316-1328.
15. Justa V, Reis FJP, Juacaba RC. Cornea Plana. Rev Brasil Ophthalmol. 1984;43:109-112.
16. Waizenegger UR, Kohnen T, Weidle EG, Schutte E. [Congenital familial cornea plana with ptosis, peripheral sclerocornea and conjunctival xerosis]. Klin Monatsbl Augenheilkd. 1995;207(2):111-116.
17. Forsius H, Damsten M, Eriksson AW, Fellman J, Lindh S, Tahvanainen E. Autosomal recessive cornea plana. A clinical and genetic study of 78 cases in Finland. Acta Ophthalmol Scand. 1998;76(2):196-203.
18. Sigler-Villanueva A, Tahvanainen E, Lindh S, Dieguez-Lucena J, Forsius H. Autosomal dominant cornea plana: Clinical findings in a Cuban family and a review of the literature. Ophthalmic Genet. 1997;18(2):55-62.
19. Eriksson AW, Lehmann W, Forsius J. Congenital cornea plana in Finland. Clin Genet. 1973;4(4):301-310.
20. Vithana EN, Morgan P, Sundaresan P, et al. Mutations in sodiumborate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2). Nat Genet. 2006;38(7):755-757.
21. Jiao X, Sultana A, Garg P, et al. Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. J Med Genet. 2006.
22. Kanis AB, Al-Rajhi AA, Taylor CM, et al. Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and ADCHED loci. Ophthalmic Genet. 1999;20(4):243-249.