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Gene Review

CDB2  -  corneal dystrophy of Bowman layer type II...

Homo sapiens

Synonyms: CDBII, CDTB
 
 
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High impact information on CDB2

  • Besides a corneal dystrophy (CDTB), no corresponding disease is localized at the homologous region of human chromosome 10q23 [1].
  • In addition the corneal phenotypes induced by changes at R124 and R555 are amino acid specific: R124C in CDLI, R555W and R124S in CDGGI, R124H in CDA, R124L in CRRB, and R555Q in CDTB [2].
  • 5. Based on this evidence, we have identified another locus (CDB2) for corneal dystrophy of the anterior basement membrane/Bowman's membrane, Thiel-Behnke type, further demonstrating the exceptional genetic and phenotypic heterogeneity of these diseases [3].
  • CONCLUSIONS: Mutations in the coding sequence of the human collagen XVII (COL17A1) gene are not the cause of CDB2 [4].
  • METHODS: We evaluated a five-generation family with CDB2 mapped to chromosome 10 [4].
 

Biological context of CDB2

 

Analytical, diagnostic and therapeutic context of CDB2

References

  1. Cataract mutations and lens development. Graw, J. Progress in retinal and eye research. (1999) [Pubmed]
  2. BIGH3 mutation spectrum in corneal dystrophies. Munier, F.L., Frueh, B.E., Othenin-Girard, P., Uffer, S., Cousin, P., Wang, M.X., Héon, E., Black, G.C., Blasi, M.A., Balestrazzi, E., Lorenz, B., Escoto, R., Barraquer, R., Hoeltzenbein, M., Gloor, B., Fossarello, M., Singh, A.D., Arsenijevic, Y., Zografos, L., Schorderet, D.F. Invest. Ophthalmol. Vis. Sci. (2002) [Pubmed]
  3. Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24. Yee, R.W., Sullivan, L.S., Lai, H.T., Stock, E.L., Lu, Y., Khan, M.N., Blanton, S.H., Daiger, S.P. Genomics (1997) [Pubmed]
  4. Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25. Sullivan, L.S., Zhao, X., Bowne, S.J., Xu, X., Daiger, S.P., Yee, S.B., Yee, R.W. Curr. Eye Res. (2003) [Pubmed]
  5. Recurrence of chromosome 10 Thiel-Behnke corneal dystrophy (CDB2) after excimer laser phototherapeutic keratectomy or penetrating keratoplasty. Sorour, H.M., Yee, S.B., Peterson, N.J., Li, F.T., Macsai, M.S., Zhao, X.C., Yee, R.W. Cornea (2005) [Pubmed]
 
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