✦ LIBER ✦

Novel mutations of the RPGR gene in RP3 families

✍ Scribed by Ilaria Zito; Michael B. Gorin; Catherine Plant; Alan C. Bird; Shomi S. Bhattacharya; Alison J. Hardcastle

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 19 KB
Volume: 15
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(200004)15:4<386::aid-humu23>3.0.co;2-4

No coin nor oath required. For personal study only.

✦ Synopsis

X-linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness within the third decade of life. Mutations in the RPGR gene (retinitis pigmentosa GTPase regulator), located on Xp21.1 in the RP3 region, have been associated with an RP phenotype. Further to our previous mutation screening of RPGR in families segregating with the RP3 locus, we have expanded this study to include other 8 RP3 pedigrees. Here we report the results of this expanded study and the identification of five mutations in RPGR, four of which are novel (IVS6+5 G>A, 950-951delAA, 963 T>C, EX8del) and one of which occurs in the donor splice site of intron 1 (IVS1+1 G>A). These findings bring the proportion of "RP3 genotypes" with a mutation in this gene to 27% (10/37).

📜 SIMILAR VOLUMES

Identification of a 5′ splice site mutat

Identification of a 5′ splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3)

✍ Katherine L. Dry; Forbes D.C. Manson; Alan Lennon; Arthur A.B. Bergen; Dieuwke B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 332 KB 👁 2 views

Communicated by

Five novel RPGR mutations in families wi

Five novel RPGR mutations in families with X-linked retinitis pigmentosa

✍ Maria Guevara-Fujita; Stacey Fahrner; Kinga Buraczynska; Jason Cook; Dianna Whea 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 24 KB 👁 1 views

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 (Retinitis Pigmentosa GTPas

Novel frameshift mutations in the RP2 ge

Novel frameshift mutations in the RP2 gene and polymorphic variants

✍ Dawn L. Thiselton; Ilaria Zito; Catherine Plant; Marcelle Jay; Shirley V. Hodgso 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 1 views

Identification of two novel mutations (E

Identification of two novel mutations (E332X and c1536delC) in the RPGR gene in two Chinese families with X-linked retinitis pigmentosa

✍ Li Liu; Lei Jin; Mugen Liu; Yong Wei; Xuejun Wu; Ye Liu; Youe Liu; Honghai Wang; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB

Novel mutations in the LKB1/STK11 gene i

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families

✍ Anne Marie Westerman; Mark M. Entius; Patrick P.C. Boor; Rita Koole; Ellen de Ba 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 208 KB 👁 2 views

The Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder in which gastrointestinal hamartomatous polyposis, mucocutaneous pigmentation, and a predisposition for developing cancer are transmitted in an autosomal dominant fashion. The recently identified LKB1/STK11 gene located at chromosome 19p

Detection of mutations in the ALD gene (

Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations

✍ M. Gomez Lira; M. Mottes; P.F. Pignatti; I. Medica; G. Uziel; M. Cappa; E. Berti 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB 👁 2 views

The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C> >T (P543L), 2053A> >G (