Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Mutations in the RP2 gene account for up to 20% of X‐linked recessive retinitis pigmentosa (RP). Arg120stop is to date the most frequently reported mutation found in RP2. Mutation screening was performed during the course of a large screening program of retinal degenerative disorders (RDDs) in South...

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Bibliographic Details
Published in:Clinical genetics 2004-01, Vol.65 (1), p.7-10
Main Authors: Vorster, AA, Rebello, MT, Coutts, N, Ehrenreich, L, Gama, AD, Roberts, LJ, Goliath, R, Ramesar, R, Greenberg, LJ
Format: Article
Language:English
Subjects:
Adult
Aged
Arginine - genetics
Biological and medical sciences
Codon, Nonsense - genetics
DNA Mutational Analysis
Epigenesis, Genetic
Exons
Eye Proteins - genetics
Female
General aspects. Genetic counseling
genetic counseling
germ line mosaic
Humans
Intracellular Signaling Peptides and Proteins
Male
Medical genetics
Medical sciences
Membrane Proteins
Microtubules
Mosaicism - genetics
Pedigree
Retinitis Pigmentosa - genetics
Risk Assessment
RP2
X-linked retinitis pigmentosa
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Summary:Mutations in the RP2 gene account for up to 20% of X‐linked recessive retinitis pigmentosa (RP). Arg120stop is to date the most frequently reported mutation found in RP2. Mutation screening was performed during the course of a large screening program of retinal degenerative disorders (RDDs) in South Africa using exon 1 and 2 of RP2 in 20 unrelated families with an X‐linked mode of retinal degenerative inheritance. Direct sequencing analysis revealed a C→T transition at position 358 in the proband in a family of German origin. Subsequent analysis revealed that this Arg120stop mutation cosegregated with the disease in an additional affected family member. The nonsense mutation, Arg120stop, could not however, be detected in the somatic cells of the obligate carrier female. This, the first report of a germ line mutation for a family with RP, has many implications for genetic counseling of retinal degeneration (RD). To avoid inaccurate risk assessment for RP due to epigenetic events, such as the rare occurrence of germ line mosaicism, genetic counseling in families with XLRP should always be guided by molecular testing.
ISSN:0009-9163
1399-0004
DOI:10.1111/j..2004.00163.x