Dyslexia is characterized by difficulty with learning to read fluently and accurately despite adequate instruction and normal intelligence. While family and twin studies suggest a genetic contribution to dyslexia, the genes involved remains largely unknown. Here, we analyzed a large pedigree of 41 members over 3 generations, including 11 with dyslexia . Using parametric multipoint linkage analysis, we detected a single region with a LOD score of 3.9 located on chromosome 7. The risk haplotype encompasses 600 kb within CNTNAP2, a gene previously proposed for dyslexia and autism or language delay. We performed Illumina short read WGS on 11 family members: 8 carriers of the dyslexia haplotype and 3 non-carriers.
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