Zusammenfassung
Die Lippen-Kiefer-Gaumen-Spalte (LKG) stellt eine der häufigsten angeborenen Fehlbildungen dar. Etwa 50–60% der LKG-Fälle sind nichtsyndromal und in der Regel genetisch komplex vererbt. Assoziations- und Kopplungsanalysen ergaben eine Reihe von Kandidatengenen bzw. -regionen, wobei bislang nur wenige Befunde in unabhängigen Stichproben unterstützt werden konnten. Zur Anwendung in der medizinischen Routine eignen sich die bisherigen Erkenntnisse über genetische Faktoren noch nicht. Die langfristig zu erwartende Identifizierung aller ursächlichen Gene und exogenen Faktoren wird ein umfassendes Verständnis der pathophysiologischen Ursachen ermöglichen und zur Entwicklung neuer Präventionsstrategien beitragen.
Abstract
Nonsyndromic cleft lip with or without cleft palate (CL/P) represents one of the most common birth defects. Around 50–60% of all CL/P cases are nonsyndromic and have a complex genetic background. Association and linkage studies in the past have resulted in numerous candidate genes and regions. However, researchers have been able to replicate only some of these findings in independent samples, and the current knowledge of genetic risk factors cannot yet be used in the daily clinical routine. Knowledge of the genetic and exogenous factors contributing to clefting will lead to a comprehensive understanding of the underlying pathophysiology and will make development of new prevention strategies possible.
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Danksagung
Die Autorin dankt der DFG und BONFOR (Forschungsförderung an der Universität Bonn).
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Mangold, E. Genetik der nichtsyndromalen Lippen-Kiefer-Gaumen-Spalten. medgen 19, 361–366 (2007). https://doi.org/10.1007/s11825-007-0032-4
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DOI: https://doi.org/10.1007/s11825-007-0032-4
Schlüsselwörter
- Nichtsyndromale Lippen-Kiefer-Gaumen-Spalten (LKG)
- Orofaziale Spalten
- Genetische Epidemiologie
- Kandidatenregionen
- Kandidatengene