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.
This is a preview of subscription content, access via your institution
Access options
Subscribe to this journal
Receive 12 print issues and online access
$209.00 per year
only $17.42 per issue
Buy this article
- Purchase on Springer Link
- Instant access to full article PDF
Prices may be subject to local taxes which are calculated during checkout
Similar content being viewed by others
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).
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
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
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1038/ng0992-46
This article is cited by
-
Genetic Time-series Analysis Identifies a Major QTL for in vivo Alcohol Metabolism not Predicted by in vitro Studies of Structural Protein Polymorphism at the ADH1B or ADH1C Loci
Behavior Genetics (2005)
-
Alveolar Capillary Dysplasia With Misalignment of Pulmonary Veins and Anterior Segment Dysgenesis of the Eye: A Report of a New Association and Review of the Literature
Journal of Perinatology (2001)
-
The genetics of open-angle glaucoma: The story of GLC1A and myocilin
Eye (2000)
-
The mouse Cat4 locus maps to Chromosome 8 and mutants express lens-corneal adhesion
Mammalian Genome (1997)
-
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
Nature Genetics (1996)
