Abstract
X-linked retinitis pigmentosa (XLRP) results from mutations in a number of loci, including RP2 at Xp11.3, and RP3 at Xp21.1. RP2 and RP3 genes have been identified by positional cloning. RP2 mutations are found in about 10% of XLRP patients. We performed a mutational screening of RP2 gene in patients belonging to seven unrelated families in linkage with the RP2 locus. SSCP analysis detected three conformation variants, within exon 2 and 3. Direct sequencing of exon 2, disclosed a G → A transition at nucleotide 449 (W150X), and a G → T transversion in position 547 (E183X). Sequence analysis of exon 3 variant revealed an insertion (853/854insG), leading to a frameshift. In this patient, we detected an additional sequence alteration (A → G at nucleotide 848, E283G). Each mutation was co-segregating with the disease in the affected family members available for the study. These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein.
| Original language | English |
|---|---|
| Pages (from-to) | 79-82 |
| Number of pages | 4 |
| Journal | Mutation Research - Mutation Research Genomics |
| Volume | 432 |
| Issue number | 3-4 |
| DOIs | |
| Publication status | Published - 2001 |
Fingerprint
Keywords
- Mutations
- Retinitis pigmentosa
- RP2
ASJC Scopus subject areas
- Toxicology
- Genetics
Cite this
Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa. / De Luca, Alessandro; Torrente, Isabella; Mangino, Massimo; Danesi, Rita; Dallapiccola, Bruno; Novelli, Giuseppe.
In: Mutation Research - Mutation Research Genomics, Vol. 432, No. 3-4, 2001, p. 79-82.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa
AU - De Luca, Alessandro
AU - Torrente, Isabella
AU - Mangino, Massimo
AU - Danesi, Rita
AU - Dallapiccola, Bruno
AU - Novelli, Giuseppe
PY - 2001
Y1 - 2001
N2 - X-linked retinitis pigmentosa (XLRP) results from mutations in a number of loci, including RP2 at Xp11.3, and RP3 at Xp21.1. RP2 and RP3 genes have been identified by positional cloning. RP2 mutations are found in about 10% of XLRP patients. We performed a mutational screening of RP2 gene in patients belonging to seven unrelated families in linkage with the RP2 locus. SSCP analysis detected three conformation variants, within exon 2 and 3. Direct sequencing of exon 2, disclosed a G → A transition at nucleotide 449 (W150X), and a G → T transversion in position 547 (E183X). Sequence analysis of exon 3 variant revealed an insertion (853/854insG), leading to a frameshift. In this patient, we detected an additional sequence alteration (A → G at nucleotide 848, E283G). Each mutation was co-segregating with the disease in the affected family members available for the study. These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein.
AB - X-linked retinitis pigmentosa (XLRP) results from mutations in a number of loci, including RP2 at Xp11.3, and RP3 at Xp21.1. RP2 and RP3 genes have been identified by positional cloning. RP2 mutations are found in about 10% of XLRP patients. We performed a mutational screening of RP2 gene in patients belonging to seven unrelated families in linkage with the RP2 locus. SSCP analysis detected three conformation variants, within exon 2 and 3. Direct sequencing of exon 2, disclosed a G → A transition at nucleotide 449 (W150X), and a G → T transversion in position 547 (E183X). Sequence analysis of exon 3 variant revealed an insertion (853/854insG), leading to a frameshift. In this patient, we detected an additional sequence alteration (A → G at nucleotide 848, E283G). Each mutation was co-segregating with the disease in the affected family members available for the study. These mutations are expected to introduce a stop codon within the RP2 coding sequence probably resulting in a truncated or unstable protein.
KW - Mutations
KW - Retinitis pigmentosa
KW - RP2
UR - http://www.scopus.com/inward/record.url?scp=0035130791&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0035130791&partnerID=8YFLogxK
U2 - 10.1016/S1383-5726(00)00007-8
DO - 10.1016/S1383-5726(00)00007-8
M3 - Article
C2 - 11465545
AN - SCOPUS:0035130791
VL - 432
SP - 79
EP - 82
JO - Mutation Research - Mutation Research Genomics
JF - Mutation Research - Mutation Research Genomics
SN - 1383-5726
IS - 3-4
ER -