RT Journal Article
SR Electronic
T1 A mutation in the RIEG1 gene associated with Peters’ anomaly
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 152
OP 155
DO 10.1136/jmg.36.2.152
VO 36
IS 2
A1 W Doward
A1 R Perveen
A1 I C Lloyd
A1 A E A Ridgway
A1 L Wilson
A1 G C M Black
YR 1999
UL http://jmg.bmj.com/content/36/2/152.abstract
AB Mutations within the RIEG1 homeobox gene on chromosome 4q25 have previously been reported in association with Rieger syndrome. We report a 3′ splice site mutation within the 3rd intron of the RIEG1 gene which is associated with unilateral Peters’ anomaly. The mutation is a single base substition of A to T at the invariant -2 site of the 3′ splice site. Peters’ anomaly, which is characterised by ocular anterior segment dysgenesis and central corneal opacification, is distinct from Rieger anomaly. This is the first description of a RIEG1 mutation associated with Peters’ anomaly.