A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa
PURPOSE. To identify mutations in FAM161A underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch and Belgian populations and to investigate whether common FAM161A-associated phenotypic features could be identified. METHODS. Homozygosity mapping, amplification-refractory mutation system (ARMS) analysis, and Sanger sequencing were performed to identify mutations in FAM161A. Microsatellite and SNP markers were genotyped for haplotype analysis. Patients with biallelic mutations underwent detailed ophthalmologic examinations, including measuring best-corrected visual acuity, extens... Mehr ...
Verfasser: |
Van Schil, Kristof
Klevering, B. Jeroen
Leroy, Bart P.
Pott, Jan Willem R.
Bandah-Rozenfeld, Dikla
Zonneveld-Vrieling, Marijke N.
Sharon, Dror
den Hollander, Anneke I.
Cremers, Frans P. M.
De Baere, Elfride
Collin, Rob W. J.
van den Born, L. Ingeborgh |
Dokumenttyp: |
Artikel |
Erscheinungsdatum: |
2015 |
Reihe/Periodikum: |
Van Schil , K , Klevering , B J , Leroy , B P , Pott , J W R , Bandah-Rozenfeld , D , Zonneveld-Vrieling , M N , Sharon , D , den Hollander , A I , Cremers , F P M , De Baere , E , Collin , R W J & van den Born , L I 2015 , ' A Nonsense Mutation in FAM161A Is a Recurrent Founder Allele in Dutch and Belgian Individuals With Autosomal Recessive Retinitis Pigmentosa ' , Investigative ophthalmology & visual science , vol. 56 , no. 12 , pp. 7418-7426 . https://doi.org/10.1167/iovs.15-17920 |
Schlagwörter: |
FAM161A
/ retinitis pigmentosa
/ founder mutation
/ bull's eye-like maculopathy
/ TIME QUANTITATIVE PCR
/ REVEALS
/ CILIOPATHIES
/ DISRUPTION
/ COMPONENT
/ COMPLEX |
Sprache: |
Englisch |
Permalink: |
https://search.fid-benelux.de/Record/base-27301856 |
Datenquelle: |
BASE;
Originalkatalog |
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Link(s) :
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https://hdl.handle.net/11370/69630482-bbfe-4b37-8dac-c741eb7d62be |