Variants of the KIAA0319 gene have been associated with developmental dyslexia.
Reading disability, or dyslexia, is a major social, educational, and mental health problem. In spite of average intelligence and adequate educational opportunities, 5 to 10% of school children have substantial reading deficits. Twin and family studies have shown a substantial genetic component to this disorder, with heritable variation estimated at 50 to 70%.
^Nagase T, Ishikawa K, Nakajima D, Ohira M, Seki N, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (April 1997). "Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 4 (2): 141–50. doi:10.1093/dnares/4.2.141. PMID9205841.
Ozçelik T, Porteus MH, Rubenstein JL, Francke U (August 1992). "DLX2 (TES1), a homeobox gene of the Distal-less family, assigned to conserved regions on human and mouse chromosomes 2". Genomics. 13 (4): 1157–61. doi:10.1016/0888-7543(92)90031-M. PMID1354641.
Cardon LR, Smith SD, Fulker DW, Kimberling WJ, Pennington BF, DeFries JC (October 1994). "Quantitative trait locus for reading disability on chromosome 6". Science. 266 (5183): 276–9. doi:10.1126/science.7939663. PMID7939663.
Paracchini S, Thomas A, Castro S, Lai C, Paramasivam M, Wang Y, Keating BJ, Taylor JM, Hacking DF, Scerri T, Francks C, Richardson AJ, Wade-Martins R, Stein JF, Knight JC, Copp AJ, Loturco J, Monaco AP (May 2006). "The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration". Human Molecular Genetics. 15 (10): 1659–66. doi:10.1093/hmg/ddl089. PMID16600991.
Luciano M, Lind PA, Duffy DL, Castles A, Wright MJ, Montgomery GW, Martin NG, Bates TC (October 2007). "A haplotype spanning KIAA0319 and TTRAP is associated with normal variation in reading and spelling ability". Biological Psychiatry. 62 (7): 811–7. doi:10.1016/j.biopsych.2007.03.007. PMID17597587.
Velayos-Baeza A, Toma C, da Roza S, Paracchini S, Monaco AP (September 2007). "Alternative splicing in the dyslexia-associated gene KIAA0319". Mammalian Genome. 18 (9): 627–34. doi:10.1007/s00335-007-9051-3. PMID17846832.