2018
DOI: 10.1111/cge.13426
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Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies

Abstract: Retinal dystrophies (RDs) are hereditary blinding eye conditions that are highly variable in their clinical presentation. The remarkable genetic heterogeneity that characterizes RD was a major challenge in establishing the molecular diagnosis in these patients until the recent advent of next-generation sequencing. It remains unclear, however, what percentage of autosomal recessive RD remain undiagnosed when all established RD genes are sequenced. We enrolled 75 families in which RD segregates in an apparently … Show more

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Cited by 15 publications
(8 citation statements)
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“…We hope that by uncovering more of the mechanisms controlled by CRB2 during ciliogenesis will help finding more targets for improving CRB2 syndrome symptoms in patients. The fact that CRB2 and HOOK2 form a complex and that HOOK2 has been recently identified in a screen for RP in human (Patel et al, 2018) reinforces the hypothesis that these two proteins work as a complex in RP degeneration.…”
Section: ) Crb2 Depletion Is Rescued By Rab8a Overexpressionsupporting
confidence: 52%
“…We hope that by uncovering more of the mechanisms controlled by CRB2 during ciliogenesis will help finding more targets for improving CRB2 syndrome symptoms in patients. The fact that CRB2 and HOOK2 form a complex and that HOOK2 has been recently identified in a screen for RP in human (Patel et al, 2018) reinforces the hypothesis that these two proteins work as a complex in RP degeneration.…”
Section: ) Crb2 Depletion Is Rescued By Rab8a Overexpressionsupporting
confidence: 52%
“…required. In fact, this advantage is deemed to be less and less relevant with time, as a recent study shows that the discovery of novel genes associated to recessive IRD approaches saturation (Patel et al 2018). As a result, up-todate panels including both genes with strong/moderate association with inherited blindness and recently discovered candidate genes, as the one presented herein, should minimize this theoretical advantage of exome sequencing.…”
Section: Discussionmentioning
confidence: 99%
“…Only 17 patients from 14 families with COD/CORD associated with TTLL5 gene defects have been described to date, and among these patients, 14 have been clinically detailed [8,[13][14][15][16][17]. Here, we report a complete clinical description of five French patients presenting either COD/CORD or early-onset severe retinal dystrophy (EOSRD) linked to six novel pathogenic biallelic variants, among which two are large intragenic deletions in TTLL5.…”
Section: Introductionmentioning
confidence: 99%