Abstract
Rieger syndrome is an autosomal dominant disorder of morphogenesis in which previous cytogenetic arrangements have suggested chromosome 4 as a candidate chromosome. Using a group of highly polymorphic short tandem repeat polymorphisms (STRP), including a new tetranucleotide repeat for epidermal growth factor (EGF), significant linkage of Rieger syndrome to 4q markers has been identified. Tight linkage to EGF supports its role as a candidate gene, although a recombinant in an unaffected individual has been identified. This study demonstrates the utility of using polymorphic STRP markers when only a limited number of small families are available for study.
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References
Jorgenson, R.J., Levin, L.S., Cross, H.E., Yoder, F. & Kelly, T.E. The Rieger syndrome. Am. J. med. Genet. 2, 307–318 (1978).
Shields, M.B. Textbook of glaucoma 199–206 (Williams & Wilkins, Baltimore, 1987).
Shields, M.B., Buckley, E., Klintworth, G.K. & Thresher, R. Axenfeld-Rieger Syndrome. A spectrum of developmental disorders Surv. Ophthalmol. 29, 387–409 (1985).
Wilcox, L.M., Bercovitch, L. & Howard, R.O. Ophthalmic features of chromosome deletion 4p- (Wolf-Hirschhorn syndrome) Am. J. Ophthalmol. 86, 834–839 (1978).
Tabbara, K.F., Khouri, F.P. & der Kaloustian, V.M. Rieger's syndrome with chromosomal anomaly (report of a case) Canad. J. Ophthal. 8, 488–491 (1973).
Herve, J. et al. Monosomie partielle du bras court d'un chromosome 10, associee a un syndrome de Rieger et a un deficit immunitaire partiel, type Di George Ann. Pediatr. 31, 77–80 (1984).
Stathacopoulos, R.A., Bateman, J.B., Sparkes, R.S. & Hepler, R.S. The Rieger syndrome and a chromosome 13 deletion J. Ped. Ophthalmol. Strabismus. 24, 198–203 (1987).
Akazawa, K. et al. A case of retinoblastoma associated with Rieger's anomaly and 13q deletion Jpn. J. Ophthalmol. 25, 321–325 (1981).
Furguson, J.G. & Hicks, E.L. Rieger's anomaly and glaucoma associated with partial trisomy 16q. Arch. Ophthal. 105, 323 (1987).
Heinemann, M., Breg, R. & Cotlier, E. Rieger's syndrome with pericentric inversion of chromosome 6. Br. J. Ophthalmol. 63, 40–44 (1979).
Ligutic, I., Brecevic, L., Petkovic, I., Kalogjera, T. & Rajic, Z. Interstitial deletion 4q and Rieger syndrome Clin. Genet. 20, 323–327 (1981).
Serville, F. & Broustet, A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum. Genet. 39, 239–242 (1977).
Mitchell, J.A. et al. Deletions of different segments of the long arm of chromosome 4 Am. J. med. Genet. 8, 73–90 (1981).
Vaux, C., Sheffield, L., Keith, C.G. & Voullaire, L. Evidence that Rieger syndrome maps to 4q25 or 4q27 J. med. Genet. 29, 256–258 (1992).
Motegi, T. et al. Deletion of a single chromosome band 4q26 in a malformed girl: exclusion of Rieger syndrome associated gene (s) from the 4q26 segment J. med. Genet. 25, 628–633 (1988).
Weber, J.L. & May, P.E. Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. Am. J. hum. Genet. 44, 388–396 (1989).
Partanen, A., Ekblom, P. & Thesleff, I. Epidermal growth factor inhibits morphogenesis and cell differentiation in cultured mouse embryonic teeth. Dev. Biol. 111, 84–89 (1985).
Abbott, B.D. & Pratt, R.M. EGF receptor expression in the developing tooth is altered by exogenous retinoic acid and EGF Dev. Biol. 128, 300–304 (1988).
Rhodes, J.A., Fitzgibbon, D.H., Macchiarulo, P.A. & Murphy, R.A. Epidermal growth factor-induced precocious incisor eruption is associated with decreased tooth size. Dev. Biol. 121, 247–252 (1987).
Kronmiller, J.E., Upholt, W.B. & Kollar, E.J. EGF Antisense oligodeoxynucleotides block murine ondontogenesis in vitro Dev. Biol. 147, 485–488 (1991).
Raymond, G.M., Jumblatt, M.M., Barrels, S.P. and Neufeld, A.H. Rabbit corneal endothelial cells in vitro: Effects of EGF. Invest. Ophthalmol. Vis. Sci. 27, 474–479 (1986).
Jumblatt, M.M., Matkin, E.D. & Neufeld, A.H. Pharmacological regulation of morphology and mitosis in cultured rabbit corneal endothelium. Invest. Ophthalmol. Vis. Sci. 29, 586–593 (1988).
Mills, K.A. et al. Genetic and Physical Maps of Human Chromosome 4 Based on Dinucleotide Repeats. Genomics (in the press).
Orita, M., Sekiya, T. & Hayashi, K. DNA Sequence Polymorphisms in Alu Repeats Genomics 8, 271–278 (1990).
Bell, G.I. et al. Human epidermal growth factor precursor: cDNA sequence, expression in vitro and gene organization Nuc. Acids Res. 14, 8427–8446 (1986).
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Murray, J., Bennett, S., Kwitek, A. et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet 2, 46–49 (1992). https://doi.org/10.1038/ng0992-46
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DOI: https://doi.org/10.1038/ng0992-46
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