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Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families
Univ Sfax, Tunisia.
Univ Sfax, Tunisia.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Linköpings universitet, Medicinska fakulteten.
Linköpings universitet, Institutionen för klinisk och experimentell medicin, Avdelningen för cellbiologi. Linköpings universitet, Medicinska fakulteten. Region Östergötland, Diagnostikcentrum, Klinisk genetik.
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2019 (Engelska)Ingår i: Clinical and Experimental Ophthalmology, ISSN 1442-6404, E-ISSN 1442-9071, Vol. 47, nr 8, s. 1063-1073Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Background

Epidemiological studies of hereditary eye diseases allowed us to identify two Tunisian families suffering from macular dystrophies: Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB). The purpose of the current study was to investigate the clinical characteristics and the underlying genetics of these two forms of macular dystrophy.

Methods

Complete ophthalmic examination was performed including optical coherence tomography, electroretinography, electrooculography and autofluoresence imaging in all patients. Genomic DNA was extracted from peripheral blood collected from patients and family members.

Results

Sanger sequencing of all exons of the BEST1 gene in both families identified two new mutations: a missense mutation c.C91A [p.L31 M] at the N‐terminal transmembrane domain within the ARB family and a nonsense mutation C1550G (p.S517X) in the C‐terminal domain segregating in the BVMD family.

Conclusions

Several mutations of the BEST1 gene have been reported which are responsible for numerous ocular pathologies. To the best of our knowledge, it is the first time we report mutations in this gene in Tunisian families presenting different forms of macular dystrophy. Our report also expands the list of pathogenic BEST1 genotypes and the associated clinical diagnosis.

Ort, förlag, år, upplaga, sidor
Wiley-Blackwell Publishing Inc., 2019. Vol. 47, nr 8, s. 1063-1073
Nyckelord [en]
autosomal recessive bestrophinopathy; best vitelliform macular dystrophy; BEST1; electrooculogram; mutation analysis
Nationell ämneskategori
Oftalmologi
Identifikatorer
URN: urn:nbn:se:liu:diva-159574DOI: 10.1111/ceo.13577ISI: 000477156700001PubMedID: 31254423Scopus ID: 2-s2.0-85069940769OAI: oai:DiVA.org:liu-159574DiVA, id: diva2:1342218
Anmärkning

Funding Agencies|DDiscovery Eye Foundation; Ministere de lEnseignement Superieur et de la Recherche Scientifique

Tillgänglig från: 2019-08-13 Skapad: 2019-08-13 Senast uppdaterad: 2020-04-16Bibliografiskt granskad

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Molbaek, AnnetteSöderkvist, Peter
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Avdelningen för cellbiologiMedicinska fakultetenKlinisk genetik
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Clinical and Experimental Ophthalmology
Oftalmologi

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