Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2001;17(1):42-51.
doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K.

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

M M Sohocki  1 , S P Daiger, S J Bowne, J A Rodriquez, H Northrup, J R Heckenlively, D G Birch, H Mintz-Hittner, R S Ruiz, R A Lewis, D A Saperstein, L S Sullivan
Affiliations

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

M M Sohocki et al. Hum Mutat. 2001.

Abstract

Inherited retinopathies are a genetically and phenotypically heterogeneous group of diseases affecting approximately one in 2000 individuals worldwide. For the past 10 years, the Laboratory for Molecular Diagnosis of Inherited Eye Diseases (LMDIED) at the University of Texas-Houston Health Science Center has screened subjects ascertained in the United States and Canada for mutations in genes causing dominant and recessive autosomal retinopathies. A combination of single strand conformational analysis (SSCA) and direct sequencing of five genes (rhodopsin, peripherin/RDS, RP1, CRX, and AIPL1) identified the disease-causing mutation in approximately one-third of subjects with autosomal dominant retinitis pigmentosa (adRP) or with autosomal dominant cone-rod dystrophy (adCORD). In addition, the causative mutation was identified in 15% of subjects with Leber congenital amaurosis (LCA). Overall, we report identification of the causative mutation in 105 of 506 (21%) of unrelated subjects (probands) tested; we report five previously unreported mutations in rhodopsin, two in peripherin/RDS, and one previously unreported mutation in the cone-rod homeobox gene, CRX. Based on this large survey, the prevalence of disease-causing mutations in each of these genes within specific disease categories is estimated. These data are useful in estimating the frequency of specific mutations and in selecting individuals and families for mutation-specific studies.

PubMed Disclaimer

References

    1. Antinolo G, Sanchez B, Borrego S, Rueda T, Chaparro P, Cabeza JC. Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1994;3:1421. - PubMed
    1. Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn CF, Bhattacharya SS, Bird A, Sullivan LS. Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. Hum Mol Genet. 1999;8:2121–2128. - PMC - PubMed
    1. Chen S, Wang Q, Nie Z, Sun H, Lennon G, Copeland NG, Gilbert DJ, Jenkins NA, Zack DJ. Crx, a novel otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron. 1997;19:1017–1030. - PubMed
    1. Connell G, Bascom R, Molday L, Reid D, McInnes RR, Molday RS. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci USA. 1991;38:723–726. - PMC - PubMed
    1. Daiger SP, McGuire RE, Sullivan LS, Sohocki MM, Blanton SH, Humphries P, Green ED, Mintz-Hittner H, Heckenlively JR. Progress in positional cloning of RP10 (7q31.3), RP1 (8q11-q21), and VMD1 (8q24) In: LaVail MM, Hollyfield JG, Anderson RE, editors. Degenerative retinal diseases. New York: Plenum Press; 1997. pp. 277–294.

Publication types

MeSH terms