Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Utsch, Boris; Sayer, JA; Attanasio, Massimo; Hennies, Hans-Christian; Pöhl, Martin; Omran, Heymut; Kühr, J.; Nauta, Jeroen; Peirera, R.; Hildebrandt, Friedhelm

doi:10.1055/s-2005-868016

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Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

Chang

Yarmishyn

et al. 2022

IJMS

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Cerebral visual impairments (CVIs) is an umbrella term that categorizes miscellaneous visual defects with parallel genetic brain disorders. While the manifestations of CVIs are diverse and ambiguous, molecular diagnostics stand out as a powerful approach for understanding pathomechanisms in CVIs. Nevertheless, the characterization of CVI disease cohorts has been fragmented and lacks integration. By revisiting the genome-wide and phenome-wide association studies (GWAS and PheWAS), we clustered a handful of renowned CVIs into five ontology groups, namely ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, Alstrom syndrome), demyelination diseases (multiple sclerosis, Alexander disease, Pelizaeus–Merzbacher disease), transcriptional deregulation diseases (Mowat–Wilson disease, Pitt–Hopkins disease, Rett syndrome, Cockayne syndrome, X-linked alpha-thalassaemia mental retardation), compromised peroxisome disorders (Zellweger spectrum disorder, Refsum disease), and channelopathies (neuromyelitis optica spectrum disorder), and reviewed several mutation hotspots currently found to be associated with the CVIs. Moreover, we discussed the common manifestations in the brain and the eye, and collated animal study findings to discuss plausible gene editing strategies for future CVI correction.

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Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

Chang

Yarmishyn

et al. 2022

IJMS

View full text Add to dashboard Cite

show abstract

Confirmation of the JBTS3 locus and identification of a new ahi1 gene mutation in Joubert syndrome (JS) type 3 with renal involvement – evidence for other JS-causing genes in this region?

Cited by 1 publication

References 0 publications

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

Genetics behind Cerebral Disease with Ocular Comorbidity: Finding Parallels between the Brain and Eye Molecular Pathology

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