Abstract
Purpose. To determine whether defects in the human recoverin gene cause retinitis pigmentosa (RP) or an allied disease such as Usher syndrome, Leber congenital amaurosis, or the Bardet-Biedl syndrome. Methods. Single-strand conformation polymorphism analysis and direct genomic sequencing techniques were used to screen 596 unrelated patients, comprising 167 patients with dominant RP, 168 with recessive RP, and 261 with an allied disease. Results. Four sequence variants were discovered. The first was a missense change (Ala200Thr) found in one family with autosomal dominant RP and in one family with autosomal recessive RP; it did not segregate with disease. The second was a silent, single-base variation affecting codon Ser24 with a minor allele frequency of approximately 0.5%. The third was a silent, single-base variation affecting codon VA1122. The fourth was a single-nucleotide substitution in intron 2, 11 bp upstream of exon 3. Conclusions. The authors found no evidence that mutations in the recoverin gene are a cause of RP or another of the hereditary retinal diseases studied. The human phenotype associated with mutations of the recoverin gene remains unknown.
| Original language | English |
|---|---|
| Pages (from-to) | 704-709 |
| Number of pages | 6 |
| Journal | Investigative Ophthalmology and Visual Science |
| Volume | 38 |
| Issue number | 3 |
| State | Published - Apr 11 1997 |
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Keywords
- Bardet-Biedl syndrome
- Leber congenital amaurosis
- recoverin
- retinitis pigmentosa
- Usher syndrome
ASJC Scopus subject areas
- Ophthalmology
Cite this
Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease. / Parminder, Amy H.; Murakami, Akira; Inana, George; Berson, Eliot L.; Dryja, Thaddeus P.
In: Investigative Ophthalmology and Visual Science, Vol. 38, No. 3, 11.04.1997, p. 704-709.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Evaluation of the human gene encoding recoverin in patients with retinitis pigmentosa or an allied disease
AU - Parminder, Amy H.
AU - Murakami, Akira
AU - Inana, George
AU - Berson, Eliot L.
AU - Dryja, Thaddeus P.
PY - 1997/4/11
Y1 - 1997/4/11
N2 - Purpose. To determine whether defects in the human recoverin gene cause retinitis pigmentosa (RP) or an allied disease such as Usher syndrome, Leber congenital amaurosis, or the Bardet-Biedl syndrome. Methods. Single-strand conformation polymorphism analysis and direct genomic sequencing techniques were used to screen 596 unrelated patients, comprising 167 patients with dominant RP, 168 with recessive RP, and 261 with an allied disease. Results. Four sequence variants were discovered. The first was a missense change (Ala200Thr) found in one family with autosomal dominant RP and in one family with autosomal recessive RP; it did not segregate with disease. The second was a silent, single-base variation affecting codon Ser24 with a minor allele frequency of approximately 0.5%. The third was a silent, single-base variation affecting codon VA1122. The fourth was a single-nucleotide substitution in intron 2, 11 bp upstream of exon 3. Conclusions. The authors found no evidence that mutations in the recoverin gene are a cause of RP or another of the hereditary retinal diseases studied. The human phenotype associated with mutations of the recoverin gene remains unknown.
AB - Purpose. To determine whether defects in the human recoverin gene cause retinitis pigmentosa (RP) or an allied disease such as Usher syndrome, Leber congenital amaurosis, or the Bardet-Biedl syndrome. Methods. Single-strand conformation polymorphism analysis and direct genomic sequencing techniques were used to screen 596 unrelated patients, comprising 167 patients with dominant RP, 168 with recessive RP, and 261 with an allied disease. Results. Four sequence variants were discovered. The first was a missense change (Ala200Thr) found in one family with autosomal dominant RP and in one family with autosomal recessive RP; it did not segregate with disease. The second was a silent, single-base variation affecting codon Ser24 with a minor allele frequency of approximately 0.5%. The third was a silent, single-base variation affecting codon VA1122. The fourth was a single-nucleotide substitution in intron 2, 11 bp upstream of exon 3. Conclusions. The authors found no evidence that mutations in the recoverin gene are a cause of RP or another of the hereditary retinal diseases studied. The human phenotype associated with mutations of the recoverin gene remains unknown.
KW - Bardet-Biedl syndrome
KW - Leber congenital amaurosis
KW - recoverin
KW - retinitis pigmentosa
KW - Usher syndrome
UR - http://www.scopus.com/inward/record.url?scp=0030989004&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0030989004&partnerID=8YFLogxK
M3 - Article
C2 - 9071225
AN - SCOPUS:0030989004
VL - 38
SP - 704
EP - 709
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
SN - 0146-0404
IS - 3
ER -