A novel<i>C8orf37</i>splice mutation and genotype-phenotype correlation for cone-rod dystrophy

Rahner, Nils; Nuernberg, Gudrun; Finis, David; Nüernberg, Peter; Royer‐Pokora, Brigitte

doi:10.3109/13816810.2015.1071408

Cited by 13 publications

(5 citation statements)

References 24 publications

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“…We also describe a novel homozygous splicing pathogenic variant c.470 + 1G > T in C8orf37, observed in F9. The localization of genetic abnormalities has previously been described by Rahner et al, where 56% of the pathogenic variants are located in exon 6 in the C-terminal region of C8orf37 and the majority of reported variants are splicing variants 26 . We identified new homozygous pathogenic variant p.Y639C in family F11.…”

Section: Discussionmentioning

confidence: 88%

Genetic spectrum of retinal dystrophies in Tunisia

Habibi

Falfoul²,

Turki³

et al. 2020

Sci Rep

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We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic variants and describe genotype–phenotype correlations. A subset of 26 families from a cohort of 73 families with clinical diagnosis of autosomal recessive IRD (AR-IRD) excluding Usher syndrome was analyzed by whole exome sequencing and autozygosity mapping. Causative pathogenic variants were identified in 50 families (68.4%), 42% of which were novel. The most prevalent pathogenic variants were observed in ABCA4 (14%) and RPE65, CRB1 and CERKL (8% each). 26 variants (8 novel and 18 known) in 19 genes were identified in 26 families (14 missense substitutions, 5 deletions, 4 nonsense pathogenic variants and 3 splice site variants), with further allelic heterogeneity arising from different pathogenic variants in the same gene. The most common phenotype in our cohort is retinitis pigmentosa (23%) and cone rod dystrophy (23%) followed by Leber congenital amaurosis (19.2%). We report the association of new disease phenotypes. This research was carried out in Tunisian patients with IRD in order to delineate the genetic population architecture.

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Section: Discussionmentioning

confidence: 88%

Genetic spectrum of retinal dystrophies in Tunisia

Habibi

Falfoul²,

Turki³

et al. 2020

Sci Rep

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“…CFAP418 (9,15,18) and RAB28 (19)(20)(21) are both CRD genes. We thus investigated the potential interaction between CFAP418 and RAB28.…”

Section: Cfap418 Interacts Weakly With Rab28 In the Retinamentioning

confidence: 99%

“…Cilia-and Flagella-Associated Protein 418 (CFAP418) is a causative gene for retinitis pigmentosa (RP), cone-rod dystrophy (CRD), and Bardet-Biedl syndrome (BBS) (7)(8)(9)(10)(11)(12)(13)(14)(15). While all the three IRDs affect photoreceptors, BBS is a syndromic ciliopathy and affects ciliated cells in multiple tissues.…”

Section: Introductionmentioning

confidence: 99%

Disruption of CFAP418 interaction with lipids causes abnormal membrane-associated cellular processes in retinal degenerations

Clark

Neiswanger

et al. 2022

Preprint

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Syndromic ciliopathies and retinal degenerations are large heterogeneous groups of genetic diseases. CFAP418 is a causative gene of both disorders, and its protein sequence is evolutionarily conserved. However, the pathogenic mechanism caused by CFAP418 mutations is largely unknown. Here, we employed affinity purification coupled with mass spectrometry and quantitative lipidomic, proteomic, and phosphoproteomic approaches to address the molecular function of CFAP418 in mouse retinas. We showed that CFAP418 bound to lipid metabolism precursor phosphatidic acid (PA) and mitochondrion-specific lipid cardiolipin but did not form a tight and static complex with proteins. Loss of Cfap418 led to membrane lipid imbalance and protein-membrane association alteration, which subsequently caused mitochondrial defects and membrane remodeling abnormalities in multiple vesicular trafficking pathways. Loss of Cfap418 also increased the activity of PA-binding protein kinase C alpha;. Our results indicate that membrane lipid imbalance is a new pathological mechanism underlying syndromic ciliopathies and retinal degenerations, which is associated with other known causative genes for these diseases, such as RAB28 and BBS genes.

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“…Cilia-and flagella-associated protein 418 (CFAP418) is a causative gene for retinitis pigmentosa (7)(8)(9), cone-rod dystrophy (9)(10)(11), Bardet-Biedl syndrome (BBS) (12,13), and combined retinal dystrophy and macular atrophy (14). While all these IRDs affect photoreceptors, BBS is a syndromic ciliopathy and affects ciliated cells in multiple tissues.…”

Section: Introductionmentioning

confidence: 99%

Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations

Clark,

Yu,

Neiswanger

et al. 2024

JCI Insight

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A novelC8orf37splice mutation and genotype-phenotype correlation for cone-rod dystrophy

Cited by 13 publications

References 24 publications

Genetic spectrum of retinal dystrophies in Tunisia

Genetic spectrum of retinal dystrophies in Tunisia

Disruption of CFAP418 interaction with lipids causes abnormal membrane-associated cellular processes in retinal degenerations

Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations

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