liu.seSearch for publications in DiVA
Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families
Univ Sfax, Tunisia.
Univ Sfax, Tunisia.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Clinical genetics.
Show others and affiliations
2019 (English)In: Clinical and Experimental Ophthalmology, ISSN 1442-6404, E-ISSN 1442-9071Article in journal (Refereed) Epub ahead of print
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.

Place, publisher, year, edition, pages
Wiley-Blackwell Publishing Inc., 2019.
Keywords [en]
autosomal recessive bestrophinopathy; best vitelliform macular dystrophy; BEST1; electrooculogram; mutation analysis
National Category
Ophthalmology
Identifiers
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
Note

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

Available from: 2019-08-13 Created: 2019-08-13 Last updated: 2019-08-19Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Search in DiVA

By author/editor
Molbaek, AnnetteSöderkvist, Peter
By organisation
Division of Cell BiologyFaculty of Medicine and Health SciencesClinical genetics
In the same journal
Clinical and Experimental Ophthalmology
Ophthalmology

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 26 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • oxford
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf