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Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?
Author(s) -
Vorster AA,
Rebello MT,
Coutts N,
Ehrenreich L,
Gama AD,
Roberts LJ,
Goliath R,
Ramesar R,
Greenberg LJ
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j..2004.00163.x
Subject(s) - genetics , biology , retinitis pigmentosa , proband , genetic counseling , germline mosaicism , nonsense mutation , mutation , exon , gene , missense mutation
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.