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Identification of a 5′ splice site mutation in the RPGR gene in a family with X‐linked retinitis pigmentosa (RP3)
Author(s) -
Dry Katherine L.,
Manson Forbes D.C.,
Len Alan,
Bergen Arthur A.B.,
Van Dorp Dieuwke B.,
Wright Alan F.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:2<141::aid-humu6>3.0.co;2-q
Subject(s) - biology , genetics , retinitis pigmentosa , splice site mutation , exon , frameshift mutation , mutation , intron , gene , transversion , rna splicing , alternative splicing , rna
We have identified a novel RPGR gene mutation in a large Dutch family with X‐linked retinitis pigmentosa (RP3). In affected members, a G→T transversion was found at position +1 of the 5′ splice site of intron 5 of the RPGR (retinitis pigmentosa GTPase regulator) gene. Analysis of this mutation at the RNA level showed cryptic splicing upstream of the mutation in exon 5 leading to a frameshift and downstream termination codon. Identification of the causative mutation in this family has facilitated the detection of females at risk of having an affected son. Hum Mutat 13:141–145, 1999. © 1999 Wiley‐Liss, Inc.