Wissinger Lab

Molecular Genetics Laboratory

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Anja Kathrin Mayer

SurnameMayer
First nameAnja Kathrin
Position and TitlePhD student, M.Sc.
ProjectNext generation sequencing in inherited retinal disease

Business address

Molecular Genetics Laboratory
Institute for Ophthalmic Research
Centre for Ophthalmology,
University of Tübingen
Elfriede-Aulhorn-Strasse 7
D-72076 Tübingen,
Germany

Phone: +49 (0)7071 29-80706

E-mail: anja-kathrin.mayer[at]student.uni-tuebingen.de

Project descriptions

Retinal dystrophies (RD) represent a group of blinding diseases with marked genetic and clinical heterogeneity. Most RD forms arise from degeneration of rods or cones or degenerations of both. Until recently it had been a difficult task to determine the causative mutations in RD since mutations in more than 180 genes have previously been associated with the different disease entities. Therefore, next generation sequencing (NGS) with its massive parallelization is currently considered the most efficient approach for mutation screening. Targeted gene approaches analyzing all presently known genes with a connection to hereditary ophthalmic disease like our Retina-All-Panel do not have the ability to discover mutations in genes that have not previously been associated with RDs. However, whole exome sequencing has the potential to discover new disease-causing genes.

The NGS of all coding exons and flanking exon/intron boundaries of all known human genes is performed by external service companies. Evaluation and interpretation of the detected sequence alterations is done in our laboratory.

The aim of this project is to detect pathogenic sequence alterations in genes that have not been associated with hereditary ophthalmic disease so far and to prove their pathogenicity by different biological experiments to smooth the way for therapeutic intervention.

Publications

  1. Mayer AK, Van Cauwenbergh C, Rother C, Baumann B, Reuter P, De Baere E, Wissinger B, Kohl S; ACHM Study Group. CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients. Hum Mutat. 2017 Aug 10. doi: 10.1002/humu.23311. [Epub ahead of print]
  2. Stingl K, Mayer AK, Llavona P, Mulahasanovic L, Rudolph G, Jacobson SG, Zrenner E, Kohl S, Wissinger B, Weisschuh N. CDHR1 mutations in retinal dystrophies. Sci Rep. 2017 Aug 1;7(1):6992.
  3. Van Schil K, Naessens S, Van de Sompele S, Carron M, Aslanidis A, Van Cauwenbergh C, Mayer AK, Van Heetvelde M, Bauwens M, Verdin H, Coppieters F, Greenberg ME, Yang MG, Karlstetter M, Langmann T, De Preter K, Kohl S, Cherry TJ, Leroy BP; CNV Study Group; De Baere E. Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet Med. 2017 Jul 27. doi: 10.1038/gim.2017.97. [Epub ahead of print]
  4. Kamme C, Mayer AK, Strom TM, Andréasson S, Weisschuh N. Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. Acta Ophthalmol. 2017 May;95(3):e250-e252.
  5. Weisschuh N, Mayer AK, Strom TM, Kohl S, Glöckle N, Schubach M, Andreasson S, Bernd A, Birch DG, Hamel CP, Heckenlively JR, Jacobson SG, Kamme C, Kellner U, Kunstmann E, Maffei P, Reiff CM, Rohrschneider K, Rosenberg T, Rudolph G, Vámos R, Varsányi B, Weleber RG, Wissinger B. Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing. PLoS One. 2016 Jan 14;11(1):e0145951.
  6. Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation. Eur J Hum Genet. 2016 Mar;24(3):459-62.
  7. Mayer AK, Mahajnah M, Zobor D, Bonin M, Sharkia R, Wissinger B. Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. Mol Vis. 2015 Mar 15;21:306-15.