Genetik der Legasthenie

Zusammenfassung

Die Legasthenie (Lese- und Rechtschreibstörung) ist eine der häufigsten Störungen im Kindes- und Jugendalter (Prävalenz um 4–12%). Molekulargenetische Untersuchungen haben gezeigt, dass genetische Einflüsse zweifellos eine wichtige Rolle bei der Entstehung einer Legasthenie spielen. Ist ein Kind in der Familie von einer Legasthenie betroffen, so sind oft auch Geschwister (34–45%) und/oder ein Elternteil (40–46%) betroffen. Mittels molekulargenetischer Untersuchungen wird danach geforscht, welche Gene bei der Entwicklung des Erlernens von Lesen und Rechtschreiben eine Rolle spielen. Gesichert sind bisher 7 Genorte auf den Chromosomen 15q21 (=DYX1; MIM #127700), 6p22 (=DYX2; MIM %600202), 2p15 (=DYX3; MIM %604254), 3p12-q13 (=DYX5; MIM %606896) und 18p11 (=DYX6; MIM %606616), 1p36-p34 (=DYX8; MIM %608995) und Xq27 (=DYX9; MIM %300509). Aufgrund von Segregationsanalysen und molekulargenetischen Befunden nimmt man i. d. R. einen komplexen Erbgang an. Allerdings liegt in einigen Familien ein autosomal dominanter Erbgang mit unvollständiger Penetranz vor.

Abstract

Developmental dyslexia is one of the most common disorders in childhood and adolescence (prevalence around 4–12%). Molecular genetic studies have shown that genetic factors undoubtedly play an important role in the emergence of dyslexia. If a child is affected with dyslexia, the risk for a sibling being affected is 34–45% and/or that for one parent being affected is 40–46%. Molecular genetic studies will help to find the genes that play a role in the development of learning to read and write. The chromosomal location of 7 loci are confirmed on chromosomes 15q21 (=DYX1; MIM #127700), 6p22 (=DYX2; MIM %600202), 2p15 (=DYX3; MIM %604254), 3p12-q13 (=DYX5; MIM %606896) and 18p11 (=DYX6; MIM %606616), 1p36-p34 (=DYX8; MIM %608995) und Xq27 (=DYX9; MIM %300509). On the basis of segregation analysis and molecular genetic findings, one assumes usually a complex inheritance, however, the inheritance in some families is autosomal dominant with incomplete penetrance.

Schlüsselwörter

Legasthenie - Genetik - Genorte - Kandidatengene

Key words

developmental dyslexia - genetics - gene loci - candidate genes

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