Deletion in the Peripherin/RDS Gene in Two Unrelated Sardinian Families With Autosomal Dominant Butterfly-Shaped Macular Dystrophy

Fossarello, Maurizio; Bertini, C; Galantuomo, Maria Silvana; Cao, Antonio; Serra, A.; Pirastu, Mario

doi:10.1001/archopht.1996.01100130444016

Cited by 43 publications

(18 citation statements)

References 44 publications

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“…It is a glycoprotein of 39 kDa (346 amino acids), is highly conserved among mice, cattle, rats and humans and is thought to play an important role in the assembly, orientation and physical stability of the membranous disc of rods and cones. Mutations in the human peripherin/RDS gene have been found (table 3) in families with RP [44,[112][113][114][115][116][117][118][119][120], butterfly shaped pigment dystrophy [121][122][123], retinitis punctata albescens [124], pattern dystrophy [125], macular dystrophy [126][127][128], fundus flavimaculatus [129], bull's eye maculopathy [130], central areolar choroidal dystrophy [131], and cone-rod dystrophy [132,133]. Thus, mutations in the peripherin/RDS gene are associated with radically different phenotypes.…”

Section: Mutation In the Peripherin/rds Genementioning

confidence: 99%

Signal transduction in the retina and inherited retinopathies

Shastry

1997

Cellular and Molecular Life Sciences (CMLS)

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In this paper, an attempt is made to highlight some of the recent developments in genetics to understand the group of inherited eye disorders referred to as retinitis pigmentosa (RP). Of the seven genes identified, six are expressed specifically in the photoreceptor cells and four encode the enzymes involved in the phototransduction pathway. A short discussion is presented of the tremendous phenotypic heterogeneity. An understanding of RP requires knowledge of other genetic and environmental factors as well as tests to measure the status of the patient's photoreceptor cells in various disease stages.

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Section: Mutation In the Peripherin/rds Genementioning

confidence: 99%

Signal transduction in the retina and inherited retinopathies

Shastry

1997

Cellular and Molecular Life Sciences (CMLS)

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“…The in-frame deletions lead to the loss of 1-4 amino acids from the protein. Recently, a large deletion, that removes exons 2 and 3 of the peripherin/RDS gene has been reported [Fossarello et al, 1996].…”

Section: Mutation Spectrummentioning

confidence: 99%

The Role of the Peripherin/<i>RDS</i> Gene in Retinal Dystrophies

Kohl¹,

Giddings²,

Besch

et al. 1998

Cells Tissues Organs

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Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc membranes of the photoreceptor outer segments, where it is thought to play an important role in folding and stacking of the discs. Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinal dystrophies. To date over 60 different mutations have been reported in human retinal diseases, with most being restricted to single families. A characteristic of mutations in the peripherin/RDS gene is the broad phenotypic spectrum in patients, and the variability in clinical expression, even within families. Thus, genotype-phenotype correlations are difficult and only reliable for a minority of mutations.

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“…Mutations in this gene were associated with a wide variety of phenotypes, 3 among them other maculopathies such as central areolar choroidal dystrophy, 16 butterfly-shaped pigment dystrophy, and pseudo-Stargardt pattern dystrophy, 9 as well as pan-retinal dystrophies. 10,[17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32] The majority of cases have a negative family history for the disease, and only a minority of AFVD cases carry mutations in the genes which were associated with this phenotype. Between 0 and 18% of patients with AFVD have mutations in PRPH2, while a small minority have mutations in BEST1 or IMPG1/2.…”

Section: Introductionmentioning

confidence: 99%