Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of
            <i>CDH23</i>

Branson, Sara V.; McClintic, Jedediah; Stamper, Tara H.; Haldeman-Englert, Chad R.; John, Vishak J.

doi:10.3928/23258160-20160126-14

Cited by 10 publications

(5 citation statements)

References 8 publications

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“…Although mutations of the USH1C and CDH23 genes have been described in two patients with sector RP, those patients also had early-onset hearing defects. Thus, they should be diagnosed atypical USH [19,20]. Consistent with our screening results, no patients in the current study had any hearing loss complaints.…”

Section: Discussionsupporting

confidence: 88%

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Sector Retinitis Pigmentosa caused by mutations of the RHO gene

Xiao

Zhang

et al. 2018

Eye

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Background Sector retinitis pigmentosa (RP) is an atypical form of RP in which only one or two quadrants of the retina are involved. The objectives of this study were to report the results of a molecular screening of five unrelated Chinese patients with sector RP and describe the clinical features observed in patients with RHO mutations. Methods Five probands that were clinically diagnosed with sector RP were recruited for genetic analysis. They underwent ophthalmic examinations, including best corrected visual acuity, fundus examination, visual field examinations, and electroretinography. A combination of molecular screening methods, including the targeted next-generation sequencing (TES) and sanger-DNA sequencing of RHO, were used to detect mutations. In silico programs were used to analyze the pathogenicity of all the variants. Results Three RHO missense mutations (p.T17M, p.L31Q, and p.G106R) were identified in the five unrelated probands. The novel mutation p.L31Q was detected in three unrelated probands. All patients showed bilateral and symmetrical retinal degeneration in the inferior retina and had relatively good visual acuity. Patients with the p.L31Q mutation showed phenotypic variability and variable penetrance. Conclusion Our results indicate that RHO mutations are also common in Chinese patients with sector RP. The RHO gene should be given priority during mutation screening analysis for Chinese patients with sector RP.

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Section: Discussionsupporting

confidence: 88%

“…In addition to RHO mutations, mutations of the CDH23 and USH1C genes have recently been reported to cause sector RP [19,20]. Mutations of CDH23 and USH1C typically cause Usher syndrome (USH), an autosomal recessive disorder characterized by visual impairment because of RP, sensorineural hearing loss, and variable vestibular dysfunction.…”

Section: Introductionmentioning

confidence: 99%

Sector Retinitis Pigmentosa caused by mutations of the RHO gene

Xiao

Zhang

et al. 2018

Eye

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“…The pathogenic variants of causative genes, including CDH23 , in a compound heterozygous state in Usher syndrome has been reported 11,12,16 . Combination of one missense and one splice-site CDH23 variants has also been previously reported in patient with sector retinitis pigmentosa 17 . To identify compound heterozygous CDH23 variants in USH1 similar to those in our case, a wide-range analysis using TPS may be useful.…”

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confidence: 57%

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

et al. 2019

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Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the Cadherin 23 (CDH23) gene, which confirmed the USH1 diagnosis. A novel NM_022124.5:c.130G>A/p.(Glu44Lys) was identified, expanding the mutation spectrum of CDH23.

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“…30 The present case is the second case reported in the medical literature where the combination of a null and missense variant led to deafness and sector RP (ie, mild retinal manifestations). 18 RP1 encodes a microtubule-associated protein which is thought to be retina-specific, and sequence variants are known to cause AD and AR RP. 31,32 Notably, AD RP1 RP has a relatively mild phenotype, with variants clustered in the large terminal exon 4, as was the case in patients P14-P16 in the present study.…”

Section: Discussionmentioning

confidence: 99%

“…7 Autosomal dominant (AD), autosomal recessive (AR), and X-linked (XL) modes of inheritance have been reported. There are 6 previously reported diseasecausing genes: rhodopsin (AD: RHO: Online Mendelian Inheritance in Man [OMIM] entry 180380; n ¼ 70 cases), 4,6,[8][9][10][11][12][13][14][15][16][17] usherin (AR: USH1C: OMIM 605242; n ¼ 2) 2 ; cadherin 23 (AR: CDH23, OMIM 605516; n ¼ 1) 18 ; retinol dehydrogenase 5 (AR: RDH5, OMIM 601617; n ¼ 1) 19 ; arrestin (AR: SAG, OMIM 181031; n ¼ 1) 20 ; and more recently, RP GTPase regulator gene (XL, RPGR, OMIM 312610; n ¼ 2). 4,21 All previously reported sector RP-causing variants are summarized in Supplemental Table 1.…”

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confidence: 99%

Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History

Georgiou

Grewal

Narayan

et al. 2021

American Journal of Ophthalmology

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Purpose To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. Design Retrospective case series. Methods Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings. Results Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C , n=2; MYO7A , n=2; CDH3 , n=1; EYS , n=1), X-linked (XL, n=4: PRPS1 , n=1; RPGR , n=3), and autosomal dominant (AD, n=16: IMPDH1 , n=3; RP1 , n=3; RHO , n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP ( PRPS1 , MYO7A , EYS , IMPDH1 , and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR , MYO7A , CDH23 , EYS , IMPDH1 , RP1 , and RHO -associated sector RP. Conclusions The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments.

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Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of CDH23

Cited by 10 publications

References 8 publications

Sector Retinitis Pigmentosa caused by mutations of the RHO gene

Sector Retinitis Pigmentosa caused by mutations of the RHO gene

Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I

Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History

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