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Ätiologie und genetische Aspekte der Möbius-Sequenz

Etiology and genetic aspects of Möbius sequence

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Zusammenfassung

Die Möbius-Sequenz ist ein seltenes angeborenes Krankheitsbild und durch eine Lähmung des 6. und 7. Hirnnervs definiert. Die Ursache dieser meist sporadisch auftretenden Erkrankung ist bisher noch ungeklärt. In Frage kommen genetische Faktoren und teratogene Substanzen. Als Pathomechanismus wird eine Ischämie im Bereich der Hirnnervenkerne im Hirnstamm diskutiert. Da die Möbius-Sequenz auch familiär auftreten kann, sind genetische Faktoren an der Entstehung beteiligt. Fälle von autosomal-dominanter, autosomal-rezessiver und auch X-chromosomaler Vererbung weisen in Richtung einer genetischen Heterogenität. Einige Kandidatenregionen und Kandidatengene wurden bisher beschrieben, allerdings konnte noch kein ursächliches Gen bestätigt werden.

Abstract

Möbius sequence is a rare congenital disorder defined by partial or complete agenesis of the 6th and 7th cranial nerves, which control eye movement and facial expression. The etiology is unclear but genetic and teratogenic factors are thought to be involved. Ischemia affecting the cranial nerve nuclei is a possible pathomechanism of Möbius sequence. Most cases of Möbius sequence are sporadic but some familial cases are also known. The inheritance patterns of Möbius sequence are heterogeneous and can be autosomal recessive, autosomal dominant or even X-linked. Some candidate regions and candidate genes have been described but no causative gene has yet been confirmed.

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  1. Genetische Poliklinik, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 344a, 69120, Heidelberg, Deutschland

    H. Gaspar

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  1. H. Gaspar
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Gaspar, H. Ätiologie und genetische Aspekte der Möbius-Sequenz. Ophthalmologe 107, 704–707 (2010). https://doi.org/10.1007/s00347-010-2146-3

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