A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

Archives of Ophthalmology

Volumn 123, Issue 10, 2005, Pages 1422-1426

  Vasconcellos, José P C ^a   Melo, Mônica B ^b   Schimiti, Rui B ^a   Bressanim, Norisvaldo C ^c   Costa, Fernando F ^a   Costa, Vital P ^a,d  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b Department of Physiological Sciences ^*  (Brazil)

^c UNIVERSIDADE ESTADUAL DO OESTE DO PARANÁ   (Brazil)

^d UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GAP JUNCTION ALPHA 1 PROTEIN; GAP JUNCTION PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL FEATURE; CLOSED ANGLE GLAUCOMA; CONTROLLED STUDY; ENZYME DEGRADATION; GENE IDENTIFICATION; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MEDICAL EXAMINATION; MORPHOLOGICAL TRAIT; MUTATIONAL ANALYSIS; OCULODENTODIGITAL SYNDROME; OPEN ANGLE GLAUCOMA; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SCREENING TEST; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; CONNEXIN 43; DNA MUTATIONAL ANALYSIS; EYE ABNORMALITIES; FACE; FEMALE; GENES, DOMINANT; GLAUCOMA; HUMANS; MALE; ODONTODYSPLASIA; PEDIGREE; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SYNDACTYLY; SYNDROME;

EID: 26444536650     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.123.10.1422     Document Type: Article

References (27)

1. Shapiro RE, Griffin JW, Stine OC. Evidence for genetic anticipation in the oculodentodigital syndrome. Am J Med Genet. 1997;71:36-41.
2. Boyadjiev SA, Jabs EW, LaBuda M, et al. Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23. Genomics. 1999;58:34-40.
3. Lohmann W. Beitrag zur Kenntnis des reinen Mikrophthalmus. Arch Augenheilk. 1920;86:136-141.
4. Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol. 2002;249:584-595.
5. Meyer-Schwickerath G, Gruterich E, Weyers H. Mikrophthalmssyndrome. Klin Monatsbl Augenheilkd. 1957;131:18-30.
6. Gorlin RJ, Meskin LH, Gerne JW. Oculodentodigital dysplasia. J Pediatr. 1963;63:69-75.
7. Traboulsi EI, Paris BM, Der Kaloustian VM. Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet. 1986;24:95-100.
8. Traboulsi EI, Parks MM. Glaucoma in oculo-dento-osseous dysplasia. Am J Ophthalmol. 1990;109:310-313.
9. Judisch GF, Martin-Casals A, Hanson JW, Olin WH. Oculodentodigital dysplasia: four new reports and literature review. Arch Ophthalmol. 1979;97:878-884.
10. Novotny L, Sterbova S. Meyer-Schwickerath syndrome with microphthalmia [in German]. Klin Monatsbl Augenheilkd. 1984;185:282-285.
11. Braun M, Seitz B, Naumann GO. Juvenile open angle glaucoma with microcornea in oculodento-digital dysplasia (Meyer-Schwickerath-Weyers syndrome) [in German]. Klin Monatsbl Augenheilkd. 1996;208:262-263.
12. Sugar HS. Oculodentodigital dysplasia syndrome with angle-closure glaucoma. Am J Ophthalmol. 1978;86:36-38.
13. Sugar HS, Thompson JP, Davis JD. The oculodentodigital dysplasia syndrome. Am J Ophthalmol. 1966;61:1448-1450.
14. Gladwin A, Donnai D, Metcalfe K, et al. Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet. 1997;6:123-127.
15. Paznekas WA, Boyadjiev SA, Shapiro RE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003;72:408-418.
16. Goodenough DA, Paul DL. Beyond the gap: functions of unpaired connexon channels. Nat Rev Mol Cell Biol. 2003;4:285-294.
17. Levin M. Isolation and community. J Membr Biol. 2002;185:177-192.
18. Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet. 1998;62:526-532.
19. Mackay D, Ionides A, Kibar Z, et al. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet. 1999;64:1357-1364.
20. White TW. Unique and redundant connexin contributions to lens development. Science. 2002;295:319-320.
21. Willecke K, Eiberger J, Degen J, et al. Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem. 2002;383:725-737.
22. Krutovskikh V, Yamasaki H. Connexin gene mutation in human genetic diseases. Mutat Res. 2000;462:197-207.
23. Tripathi BJ, Tripathi RC, Wisdom JE. Embryology of the anterior segment of the human eye. In: Ritch R, Shields MB, Krupin T, eds. The Glaucomas. Vol 1.2nd ed. Saint Louis, Mo: Mosby-Year Book Inc; 1996:3-38.
24. Lo CW, Cohen MF, Huang GY, et al. Cx43 gap junction gene expression and gap junctional communication in mouse neural crest cells. Dev Genet. 1997;20:119-132.
25. Lo CW, Waldo KL, Kirby ML. Gap junction communication and the modulation of cardiac neural crest cells. Trends Cardiovasc Med. 1999;9:63-69.
26. Huang GY, Cooper ES, Waldo K, Kirby ML, Gilula NB, Lo CW. Gap junction-mediated cell-cell communication modulates mouse neural crest migration. J Cell Biol. 1998;143:1725-1734.
27. Alvarado JA, Wood I, Polansky JR. Human trabecular cells, II. Invest Ophthalmol Vis Sci. 1982;23:464-478.