Skip to main content
PMC home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1997 Mar;34(3):191–195. doi: 10.1136/jmg.34.3.191

Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193.

R H Flomen 1, P A Gorman 1, R Vatcheva 1, J Groet 1, I Barisić 1, I Ligutić 1, D Sheer 1, D Nizetić 1
PMCID: PMC1050891  PMID: 9132488

Abstract

Rieger syndrome (RS) is an autosomal dominant disorder of morphogenesis characterised by malformation of the anterior segment of the eye, dental hypoplasia, and failure of the periumbilical skin to involute. RS has been mapped to the 4q25-q27 chromosomal segment by a series of cytogenetic studies as well as by genetic linkage to DNA markers. It was first localised to chromosome 4q based on an association with a constitutional deletion of 4q23-q27. In this paper we localise the proximal breakpoint of this deletion from the original patient, and we describe a new family with a de novo balanced reciprocal translocation t(4;12)(q25;q15) segregating with full RS in two generations. Using FISH and the P1 artificial chromosomes (PACs) as probes, we have physically localised both the deletion and the translocation breakpoints between genetic markers which are known to be strongly linked to RS. We have mapped both the proximal deletion breakpoint and the translocation breakpoint within a region between two groups of PACs bearing the markers D4S2945 (on the centromeric side) and D4S193 and D4S2940 (on the telomeric side). We believe that these recombinant bacterial clones derived directly from genomic DNA (not subcloned from YACs) will be valuable complementary tools in the efforts to clone the RS gene and to construct a full transcriptional and sequence ready map of this region.

Full text

PDF

Images in this article

193Image
on p.193
194Image
on p.194

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Cheng J. F., Boyartchuk V., Zhu Y. Isolation and mapping of human chromosome 21 cDNA: progress in constructing a chromosome 21 expression map. Genomics. 1994 Sep 1;23(1):75–84. doi: 10.1006/geno.1994.1461. [DOI] [PubMed] [Google Scholar]
  2. Chumakov I. M., Rigault P., Le Gall I., Bellanné-Chantelot C., Billault A., Guillou S., Soularue P., Guasconi G., Poullier E., Gros I. A YAC contig map of the human genome. Nature. 1995 Sep 28;377(6547 Suppl):175–297. doi: 10.1038/377175a0. [DOI] [PubMed] [Google Scholar]
  3. Dib C., Fauré S., Fizames C., Samson D., Drouot N., Vignal A., Millasseau P., Marc S., Hazan J., Seboun E. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996 Mar 14;380(6570):152–154. doi: 10.1038/380152a0. [DOI] [PubMed] [Google Scholar]
  4. Fryns J. P., Van Den Berghe H. Rieger syndrome and interstitial 4q26 deletion. Genet Couns. 1992;3(3):153–154. [PubMed] [Google Scholar]
  5. Héon E., Sheth B. P., Kalenak J. W., Sunden S. L., Streb L. M., Taylor C. M., Alward W. L., Sheffield V. C., Stone E. M. Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25). Hum Mol Genet. 1995 Aug;4(8):1435–1439. doi: 10.1093/hmg/4.8.1435. [DOI] [PubMed] [Google Scholar]
  6. Ioannou P. A., Amemiya C. T., Garnes J., Kroisel P. M., Shizuya H., Chen C., Batzer M. A., de Jong P. J. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nat Genet. 1994 Jan;6(1):84–89. doi: 10.1038/ng0194-84. [DOI] [PubMed] [Google Scholar]
  7. Jorgenson R. J., Levin L. S., Cross H. E., Yoder F., Kelly T. E. The Rieger syndrome. Am J Med Genet. 1978;2(3):307–318. doi: 10.1002/ajmg.1320020310. [DOI] [PubMed] [Google Scholar]
  8. Kulharya A. S., Maberry M., Kukolich M. K., Day D. W., Schneider N. R., Wilson G. N., Tonk V. Interstitial deletions 4q21.1q25 and 4q25q27: phenotypic variability and relation to Rieger anomaly. Am J Med Genet. 1995 Jan 16;55(2):165–170. doi: 10.1002/ajmg.1320550206. [DOI] [PubMed] [Google Scholar]
  9. Legius E., de Die-Smulders C. E., Verbraak F., Habex H., Decorte R., Marynen P., Fryns J. P., Cassiman J. J. Genetic heterogeneity in Rieger eye malformation. J Med Genet. 1994 Apr;31(4):340–341. doi: 10.1136/jmg.31.4.340. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Ligutić I., Brecević L., Petković I., Kalogjera T., Rajić Z. Interstitial deletion 4q and Rieger syndrome. Clin Genet. 1981 Nov;20(5):323–327. doi: 10.1111/j.1399-0004.1981.tb01042.x. [DOI] [PubMed] [Google Scholar]
  11. Makita Y., Masuno M., Imaizumi K., Yamashita S., Ohba S., Ito D., Kuroki Y. Rieger syndrome with de novo reciprocal translocation t(1;4) (q23.1;q25). Am J Med Genet. 1995 May 22;57(1):19–21. doi: 10.1002/ajmg.1320570106. [DOI] [PubMed] [Google Scholar]
  12. Motegi T., Nakamura K., Terakawa T., Oohira A., Minoda K., Kishi K., Yanagawa Y., Hayakawa H. 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. 1988 Sep;25(9):628–630. doi: 10.1136/jmg.25.9.628. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Murray J. C., Bennett S. R., Kwitek A. E., Small K. W., Schinzel A., Alward W. L., Weber J. L., Bell G. I., Buetow K. H. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet. 1992 Sep;2(1):46–49. doi: 10.1038/ng0992-46. [DOI] [PubMed] [Google Scholar]
  14. Senger G., Ragoussis J., Trowsdale J., Sheer D. Fine mapping of the human MHC class II region within chromosome band 6p21 and evaluation of probe ordering using interphase fluorescence in situ hybridization. Cytogenet Cell Genet. 1993;64(1):49–53. doi: 10.1159/000133559. [DOI] [PubMed] [Google Scholar]
  15. Serville F., Broustet A. Pericentric inversion and partial monosomy 4q associated with congenital anomalies. Hum Genet. 1977 Nov 10;39(2):239–242. doi: 10.1007/BF00287019. [DOI] [PubMed] [Google Scholar]
  16. Shields M. B., Buckley E., Klintworth G. K., Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol. 1985 May-Jun;29(6):387–409. doi: 10.1016/0039-6257(85)90205-x. [DOI] [PubMed] [Google Scholar]
  17. Vaux C., Sheffield L., Keith C. G., Voullaire L. Evidence that Rieger syndrome maps to 4q25 or 4q27. J Med Genet. 1992 Apr;29(4):256–258. doi: 10.1136/jmg.29.4.256. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Yaspo M. L., Gellen L., Mott R., Korn B., Nizetic D., Poustka A. M., Lehrach H. Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries. Hum Mol Genet. 1995 Aug;4(8):1291–1304. doi: 10.1093/hmg/4.8.1291. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES