Genetic heterogeneity in Rieger eye malformation

E Legius; C E de Die-Smulders; F Verbraak; H Habex; R Decorte; P Marynen; J P Fryns; J J Cassiman

doi:10.1136/jmg.31.4.340

Genetic heterogeneity in Rieger eye malformation

J Med Genet. 1994 Apr;31(4):340-1. doi: 10.1136/jmg.31.4.340.

Authors

E Legius¹, C E de Die-Smulders, F Verbraak, H Habex, R Decorte, P Marynen, J P Fryns, J J Cassiman

Affiliation

¹ Department of Clinical Genetics, Maastricht, The Netherlands.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Chromosomes, Human, Pair 4
Eye Abnormalities / classification
Eye Abnormalities / genetics*
Female
Genes, Dominant*
Genetic Variation
Humans
Lod Score
Male
Pedigree
Polymerase Chain Reaction
Syndrome
Tooth Abnormalities / genetics
Umbilicus / abnormalities