Perspective on Genes and Mutations Causing Retinitis Pigmentosa

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

“…Three out of four patients shared mutations, such as RP1 and RP117 with c.9405T>A 11 and RP49 and RP117 with c.4045T>A 12 , probably indicating the sharing of a common ancestor. This finding is consistent with previous studies involving Spanish cohorts, in which EYS was one of the most commonly mutated genes in recessive retinitis pigmentosa 13 , 14 . In addition, we found three novel mutations in this gene: two frameshift mutations in compound heterozygosis c.1830del in patient RP1 and c.888del in patient RP106; and a nonsense mutation also in compound heterozygosis c.14C>A, in patient RP106.…”

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

“…Three out of four patients shared mutations, such as RP1 and RP117 with c.9405T>A 11 and RP49 and RP117 with c.4045T>A 12 , probably indicating the sharing of a common ancestor. This finding is consistent with previous studies involving Spanish cohorts, in which EYS was one of the most commonly mutated genes in recessive retinitis pigmentosa 13 , 14 . In addition, we found three novel mutations in this gene: two frameshift mutations in compound heterozygosis c.1830del in patient RP1 and c.888del in patient RP106; and a nonsense mutation also in compound heterozygosis c.14C>A, in patient RP106.…”

Functional Stability of Retinal Ganglion Cells after Degeneration-Induced Changes in Synaptic Input

“…jneurosci.org as supplemental material). This is consistent with descriptions in numerous previous studies (Strettoi and Pignatelli, 2000;Strettoi et al, 2002;Jones et al, 2003; and shows that RGCs survive after photoreceptor loss and subsequent degenerative changes in the retina Daiger et al, 2007).…”

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

“…In summary, our data strongly support the hypothesis that tri-snRNP dysfunction in a broader sense can affect gene expression in a way that elicits retinal defects, an idea that is of special importance in the context of the large fraction of unknown RP disease genes (1,2). The microarray study not only gives a molecular clue for the tissue specificity paradox of RP, but also sets the stage for a further in-depth analysis of the affected transcripts.…”

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

“…Three out of four patients shared mutations, such as RP1 and RP117 with c.9405T>A 11 and RP49 and RP117 with c.4045T>A 12 , probably indicating the sharing of a common ancestor. This finding is consistent with previous studies involving Spanish cohorts, in which EYS was one of the most commonly mutated genes in recessive retinitis pigmentosa 13 , 14 . In addition, we found three novel mutations in this gene: two frameshift mutations in compound heterozygosis c.1830del in patient RP1 and c.888del in patient RP106; and a nonsense mutation also in compound heterozygosis c.14C>A, in patient RP106.…”

Functional Stability of Retinal Ganglion Cells after Degeneration-Induced Changes in Synaptic Input

“…jneurosci.org as supplemental material). This is consistent with descriptions in numerous previous studies (Strettoi and Pignatelli, 2000;Strettoi et al, 2002;Jones et al, 2003; and shows that RGCs survive after photoreceptor loss and subsequent degenerative changes in the retina Daiger et al, 2007).…”

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

“…In summary, our data strongly support the hypothesis that tri-snRNP dysfunction in a broader sense can affect gene expression in a way that elicits retinal defects, an idea that is of special importance in the context of the large fraction of unknown RP disease genes (1,2). The microarray study not only gives a molecular clue for the tissue specificity paradox of RP, but also sets the stage for a further in-depth analysis of the affected transcripts.…”

A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies

“…Three out of four patients shared mutations, such as RP1 and RP117 with c.9405T>A 11 and RP49 and RP117 with c.4045T>A 12 , probably indicating the sharing of a common ancestor. This finding is consistent with previous studies involving Spanish cohorts, in which EYS was one of the most commonly mutated genes in recessive retinitis pigmentosa 13 , 14 . In addition, we found three novel mutations in this gene: two frameshift mutations in compound heterozygosis c.1830del in patient RP1 and c.888del in patient RP106; and a nonsense mutation also in compound heterozygosis c.14C>A, in patient RP106.…”

Functional Stability of Retinal Ganglion Cells after Degeneration-Induced Changes in Synaptic Input

“…jneurosci.org as supplemental material). This is consistent with descriptions in numerous previous studies (Strettoi and Pignatelli, 2000;Strettoi et al, 2002;Jones et al, 2003; and shows that RGCs survive after photoreceptor loss and subsequent degenerative changes in the retina Daiger et al, 2007).…”

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

“…In summary, our data strongly support the hypothesis that tri-snRNP dysfunction in a broader sense can affect gene expression in a way that elicits retinal defects, an idea that is of special importance in the context of the large fraction of unknown RP disease genes (1,2). The microarray study not only gives a molecular clue for the tissue specificity paradox of RP, but also sets the stage for a further in-depth analysis of the affected transcripts.…”