A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia

Journal of Applied Genetics

Volumn 50, Issue 3, 2009, Pages 297-299

  Jamsheer, A ^a,b   Wisniewska M ^a,b   Szpak, A ^a   Bugaj, G ^a   Krawczynski M R ^a,b   Budny, B ^b   Wawrocka, A ^a   Latos Bielenska A ^a,b  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b Centre for Medical Genetics in Pozna   (Poland)

Author keywords

Connexin 43; GJA1; Missense mutation; Oculodentodigital syndrome; Oculodentoosseous dysplasia; ODDD; ODDS; Registries of congenital malformations

Indexed keywords

EID: 69549110688     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03195687     Document Type: Article

References (14)

1. Fenwick A, Richardson RJ, Butterworth J, Barron MJ, Dixon MJ, 2008. Novel mutations in GJA1 cause oculodentodigital syndrome. J Dent Res 87: 1021-1026.
2. Gladwin A, Donnai D, Metcalfe K, SchranderStumpel C, Bruction L, Verloes A, et al. 1997. Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24. Hum Mol Genet 6: 123-127.
3. Ioan DM, Dagomiz D, Fryns JP, 2002. Oculo-dento-digital dysplasia (OMIM *164200): full manifestation of the syndrome in a 9.5-year-old girl and type III syndactyly in the father. Genet Counsel 13: 187-189.
4. Judisch GF, Martin-Casals A, Hanson JW, Olin WH, 1979. Oculodentodigital dysplasia: four new reports and a literature review. Arch Ophthalmol 97: 878-884.
5. Loddenkemper T, Grote K, Evers S, Oelerich M, Stogbauer F, 2002. Neurological manifestations of the oculodentodigital dysplasia syndrome. J Neurol 249: 584-595.
6. Meyer-Schwickerath G, Gruterich E, Weyers H, 1957. Mikrophthalmussyndrome. Klin. Mbl. Augenheilk. 131: 18-30.
7. Norton KK, Carey JC, Gutmann DH, 1995. Oculodentodigital dysplasia with cerebral white matter abnormalities in a two-generation family. Am J Med Genet 57: 458-461.
8. Paznekas WA, Boyadijiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, et al. 2003. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet 72: 408-418.
9. Pizzuti A, Flex E, Mingarelli R, Salpietro C, Zelante L, Dallapiccola B, 2004. A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. Hum Mutat 23: 286.
10. Richardson RR, Donnai D, Meire F, Dixon MJ, 2004. Expression of GJA1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet 41: 60-67.
11. Richardson RJ, 2006. A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. J. Med. Genet. 43: 37.
12. Roscoe W, Veitch GI, Gong XQ, Pellegrino E, Bai D, McLachlan E, et al. 2005. Oculodentodigital dysplasia-causing connexin 43 mutants are nonfunctional and exhibit dominant effects on wildtype connexin 43. J Biol Chem 280: 11458-11466.
13. Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H, 2005. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res 96: 83-91.
14. Traboulsi EI, Faris BM, Derkaloustian VM, 1986. Persistent hyperplastic primary vitreous and recessive oculo-dento-osseous dysplasia. Am J Med Genet 24: 95-100.