Molecular Genetics of Dyslexia

Abstract

Dyslexia is a specific impairment in learning to read which affects 5–10% of school‐age children. Family and twin studies have shown that dyslexia is caused in large part by genetic factors. Dyslexia is most likely the result of the interplay of multiple genetic and environmental factors. Recently, several genes have been proposed as candidates for dyslexia susceptibility, including DYX1C1 on chromosome 15, KIAA0319 and DCDC2 on chromosome 6, ROBO1 on chromosome 3 and MRPL19 and C2ORF3 on chromosome 2. Interestingly, these genes share a putative role in brain development. No functional genetic variant has been identified for any of the genes but the study of their function offers for the first time new insights in the understanding of the biology of dyslexia and the mechanisms underlying cognition and brain function. Key concepts Several genes have recently been proposed as candidates for dyslexia susceptibility. Most of these genes have shown association in independent samples of individuals with dyslexia. A specific risk haplotype has been identified for the KIAA0319 gene. Most of the candidates have been implicated in brain development. No functional mutations have been identified for any of the genes. Gene expression has been proposed as the main mechanism linking genetic susceptibility to the development of dyslexia

Lese- und/oder Rechtschreibstörung: leitlinienbasierte Diagnostik und Therapie

“…Sowohl Umwelteinflüsse als auch genetische Faktoren spielen eine wichtige Rolle bei der Ätiologie von LRS (s. Abb. 2 ) 25 . Eine mittlerweile große Anzahl von Studien weist darauf hin, dass die Genetik der LRS komplex und multifaktoriell ist, d. h., dass eine Kombination von verschiedenen Genen (polygen) zu den Phänotypen beiträgt.…”