RT Journal Article
SR Electronic
T1 Rhodopsin mutations in a Scottish retinitis pigmentosa population, including a novel splice site mutation in intron four.
JF British Journal of Ophthalmology
JO Br J Ophthalmol
FD BMJ Publishing Group Ltd.
SP 933
OP 938
DO 10.1136/bjo.78.12.933
VO 78
IS 12
A1 C Bell
A1 C A Converse
A1 H M Hammer
A1 A Osborne
A1 N E Haites
YR 1994
UL http://bjo.bmj.com/content/78/12/933.abstract
AB Retinitis pigmentosa (RP) is the name given to a group of disorders, both clinically and genetically heterogeneous, that primarily affect the photoreceptor function of the eye. Mutations in the genes encoding for rhodopsin, RDS-peripherin, or the beta subunit of the cGMP phosphodiesterase enzyme can be responsible for the phenotype. In this study the rhodopsin gene has been screened for mutations in a panel of RP individuals and five different sequence changes have been detected to date in three dominantly inherited and two unclassified families. One of these, a base substitution in the 3'UTR, has not yet been confirmed as disease specific, while three missense substitutions have previously been reported and are likely to be responsible for the phenotype. The fifth change, a base substitution at the intron 4 acceptor splice site, represents a novel mutation and is assumed to be the causative mutation.