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Five novel RPGR mutations in families with X‐linked retinitis pigmentosa
Author(s) -
GuevaraFujita Maria,
Fahrner Stacey,
Buraczynska Kinga,
Cook Jason,
Wheaton Dianna,
Cortes Fanny,
Vicencio Cesar,
Pena Marcela,
Fishman Gerald A.,
MintzHittner Helen,
Birch David,
Hoffman Dennis,
Mears Alan J.,
Fujita Ricardo,
Swaroop Anand
Publication year - 2001
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 - 10.1002/1098-1004(200102)17:2<151::aid-humu7>3.0.co;2-w
Subject(s) - biology , retinitis pigmentosa , genetics , mutation , gene
X‐linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR ( R etinitis P igmentosa G TPase R egulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001. © 2001 Wiley‐Liss, Inc.