Autosomal-rezessive Bestrophinopathie (ARB): klinische und molekulare Beschreibung zweier Patienten im Kindesalter

Preising, Markus N.; Pasquay, Caroline; Friedburg, Christoph; Bowl, Wadim; Jäger, Melanie; Andrassi-Darida, Monika; Lorenz, Birgit

doi:10.1055/s-0032-1327782

Cited by 10 publications

(7 citation statements)

References 22 publications

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“…Mutations in BEST1 like that observed in our subject have been previously reported. Notably, our laboratory identified the mutation I366fsX384 in a subject with ARB and her asymptomatic mother, and larger deletions have also been reported in subjects with ARB and their asymptomatic parents [15] , [20] , [23] , [24] . For the Best1 I366fsX384 mutation, Best1 anion channel activity is unimpaired, and recent studies reporting on the structure of Best1 found that the entire anion channel domain of Best1 is contained within the region that is present in Best1 H422fsX431 [25] , [26] .…”

Section: Discussionmentioning

confidence: 75%

Retinitis pigmentosa associated with a mutation in BEST1

Dalvin

Chehade

Chiang³

et al. 2016

American Journal of Ophthalmology Case Reports

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PurposeThere is only one prior report associating mutations in BEST1 with a diagnosis of retinitis pigmentosa (RP). The imaging studies presented in that report were more atypical of RP and shared features of autosomal recessive bestrophinopathy and autosomal dominant vitreoretinochoroidopathy. Here, we present a patient with a clinical phenotype consistent with classic features of RP.ObservationsThe patient in this report was diagnosed with simplex RP based on clinically-evident bone spicules with characteristic ERG and EOG findings. The patient had associated massive cystoid macular edema which resolved following a short course of oral acetazolamide. Genetic testing revealed that the patient carries a novel heterozygous deletion mutation in BEST1 which is not carried by either parent. While this suggests BEST1 is causative, the patient also inherited heterozygous copies of several mutations in other genes known to cause recessive retinal degenerative disease.Conclusions and ImportanceHow some mutations in BEST1 associate with peripheral retinal degeneration phenotypes, while others manifest as macular degeneration phenotypes is currently unknown. We speculate that RP due to BEST1 mutation requires mutations in other modifier genes.

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Section: Discussionmentioning

confidence: 75%

Retinitis pigmentosa associated with a mutation in BEST1

Dalvin

Chehade

Chiang³

et al. 2016

American Journal of Ophthalmology Case Reports

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“…The typical presentation of ARB is exemplified by two male patients (a detailed description of these patients is given in Ref. 138). At the time of recording patient (A) was 8 years.…”

Section: Animal Models Of Bestrophinopathies and Novel Options In Trementioning

confidence: 99%

Bestrophin 1 – Phenotypes and Functional Aspects in Bestrophinopathies

Pasquay

Wang

Lorenz

et al. 2013

Ophthalmic Genetics

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This is to review the current state of knowledge on the functional and clinical aspects of bestrophin 1, a prominent member of a family of proteins involved in the control and properties of the light peak of the EOG. Initially human bestrophin 1 gene (BEST1) mutations were identified to underlie Best vitelliform macular dystrophy (VMD), a dominantly inherited, juvenile-onset form of macular degeneration. In the recent past the phenotypical spectrum of retinal disorders associated with BEST1 mutations has been extended and the term bestrophinopathies was coined. The physiological role of bestrophin 1 is still not completely understood but has been linked to the generation of a transepithelial chloride current by controlling voltage-dependent calcium channels (VDCC). Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors.

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“…The BEST1 gene encodes bestrophin-1, a transmembrane protein located in the basolateral membrane of the RPE (21–23). …”

Section: Discussionmentioning

confidence: 99%

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy

Lin

Gao

Liu

et al. 2015

Molecular Medicine Reports

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The purpose of the current study was to investigate the 11 bestrophin-1 (BEST1) exons in patients with best vitelliform macular dystrophy (BVMD), and to characterize the associated clinical features. Complete ophthalmic examinations were conducted on two families, and two family members were diagnosed with BVMD. Genomic DNA was extracted from the leukocytes of peripheral blood collected from the patients and their family members, in addition to 100 unrelated control subjects recruited from the same population. The polymerase chain reaction was used to amplify a total of 11 exons of the BEST1 gene, which were directly sequenced. Ophthalmic examinations, including best-corrected visual acuity, slit-lamp examination, fundus examination, fundus photography and fluorescein angiography imaging, as well as anterior segment analysis with Pentacam and optical coherence tomography, were conducted. The patients exhibited yellowish lesions in the macular area. A heterozygous mutation c.910_912delGAT (p.304del Asp) in exon 7 was identified in Case 1. A heterozygous BEST1 missense mutation c.685T>G (p.Trp229Gly) in exon 5 was identified in Case 2, but not in any of the unaffected family members or normal controls. Although BEST1 gene mutations and polymorphisms have previously been reported in various ethnic groups, the current study identified, for the first time to the best of our knowledge, two novel BEST1 gene mutations in patients with BVMD.

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Autosomal-rezessive Bestrophinopathie (ARB): klinische und molekulare Beschreibung zweier Patienten im Kindesalter

Cited by 10 publications

References 22 publications

Retinitis pigmentosa associated with a mutation in BEST1

Retinitis pigmentosa associated with a mutation in BEST1

Bestrophin 1 – Phenotypes and Functional Aspects in Bestrophinopathies

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy

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