Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift


Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 different single-nucleotide variants. A nonsynonymous polymorphism in DCDC2 (corrected P = 0.002) and a noncoding variant in S100B (corrected P = 0.016) showed a significant association with spelling performance in families of German origin. No significant association was found for the variants neither in the Finnish case-control sample set nor in the Finnish family sample set. Our findings further strengthen the role of DCDC2 and implicate S100B, in the biology of reading and spelling.


  • Hans Matsson
  • Mikael Huss
  • Helena Persson
  • Elisabet Einarsdottir
  • Ettore Tiraboschi
  • Jaana Nopola-Hemmi
  • Johannes Schumacher
  • Nina Neuhoff
  • Andreas Warnke
  • Heikki Lyytinen
  • Gert Schulte-Körne
  • Markus M Nöthen
  • Paavo H T Leppänen
  • Myriam Peyrard-Janvid
  • Juha Kere
Externa organisationer
  • Karolinska Institute


Sidor (från-till)399-401
Antal sidor3
TidskriftJournal of Human Genetics
StatusPublished - 2015 jul
Peer review utfördJa
Externt publiceradJa