Molecular Analysis and Genetic Mapping of the Rhodopsin Gene in Families with Autosomal Dominant Retinitis Pigmentosa

Overview

Journal Genomics

Specialty Genetics

Date 1993 Jul 1

PMID 8406457

Citations 27

Authors

S Bunge

H Wedemann

D David

D J Terwilliger

L I van den Born

C Aulehla-Scholz

C Samanns

M Horn

J Ott

E Schwinger

Affiliations

Soon will be listed here.

Abstract

Eighty-eight patients/families with autosomal dominant retinitis pigmentosa (RP) were screened for rhodopsin mutations. Direct sequencing revealed 13 different mutations in a total of 14 (i.e., 16%) unrelated patients. Five of these mutations (T4K, Q28H, R135G, F220C, and C222R) have not been reported so far. In addition, multipoint linkage analysis was performed on two large families with autosomal dominant RP due to rhodopsin mutations by using five DNA probes from 3q21-q24. No tight linkage was found between the rhodopsin locus (RHO) and D3S47 (theta max = 0.08). By six-point analysis, RHO was localized in the region between D3S21 and D3S47, with a maximum lod score of 13.447 directly at D3S20.

Citing Articles

Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

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Synchronized Photoactivation of T4K Rhodopsin Causes a Chromophore-Dependent Retinal Degeneration That Is Moderated by Interaction with Phototransduction Cascade Components.

Tam B, Burns P, Chiu C, Moritz O J Neurosci. 2024; 44(36).

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Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P, Daftarian N, Maroofian R, Linares P, Villalobos D, Mirrahimi M Hum Genet. 2021; 141(3-4):785-803.

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Unusual mode of dimerization of retinitis pigmentosa-associated F220C rhodopsin.

Khelashvili G, Narayana Pillai A, Lee J, Pandey K, Payne A, Siegel Z Sci Rep. 2021; 11(1):10536.

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Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Bai Z, Xie Y, Liu L, Shao J, Liu Y, Kong X BMC Med Genomics. 2021; 14(1):92.

PMID: 33781268 PMC: 8008643. DOI: 10.1186/s12920-021-00935-w.