Genetic Heterogeneity in Rieger Eye Malformation

Overview

Journal J Med Genet

Specialty Genetics

Date 1994 Apr 1

PMID 8071964

Citations 6

Authors

E Legius

C E de Die-Smulders

F Verbraak

H Habex

R Decorte

P Marynen

J P Fryns

J J Cassiman

Affiliations

Soon will be listed here.

Abstract

A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.

Citing Articles

Mapping of a congenital microcoria locus to 13q31-q32.

ROUILLAC C, Roche O, Marchant D, Bachner L, Kobetz A, Toulemont P Am J Hum Genet. 1998; 62(5):1117-22.

PMID: 9545411 PMC: 1377098. DOI: 10.1086/301841.

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25.

Gould D, Mears A, PEARCE W, Walter M Am J Hum Genet. 1997; 61(3):765-8.

PMID: 9326342 PMC: 1715932.

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.

Flomen R, GORMAN P, Vatcheva R, Groet J, Barisic I, Ligutic I J Med Genet. 1997; 34(3):191-5.

PMID: 9132488 PMC: 1050891. DOI: 10.1136/jmg.34.3.191.

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25.

Mears A, Mirzayans F, Gould D, PEARCE W, Walter M Am J Hum Genet. 1996; 59(6):1321-7.

PMID: 8940278 PMC: 1914875.

Closing in on the Rieger syndrome gene on 4q25: mapping translocation breakpoints within a 50-kb region.

Datson N, Semina E, van Staalduinen A, Dauwerse H, Meershoek E, Heus J Am J Hum Genet. 1996; 59(6):1297-305.

PMID: 8940275 PMC: 1914859.

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