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Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome

MPG-Autoren
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Winter,  Jennifer
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Lehmann,  Tanja
Max Planck Society;

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Suckow,  Vanessa
Signal Transduction in Mental Retardation and Pain (Tim Hucho), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Kalscheuer,  Vera
Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Lenzner,  Steffen
Max Planck Society;

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Ropers,  Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Schweiger,  Susann
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Zitation

Winter, J., Lehmann, T., Suckow, V., Kijas, Z., Kulozik, A., Kalscheuer, V., et al. (2003). Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome. Human Genetics, 112(3), 249-254. doi:10.1007/s00439-002-0901-5.


Zitierlink: https://hdl.handle.net/11858/00-001M-0000-0010-8A91-8
Zusammenfassung
Opitz G/BBB syndrome is a malformation syndrome of the ventral midline mainly characterized by hypertelorism, swallowing difficulties, hypospadias and developmental delay. SSCP analysis and genomic sequencing of the MID1 open reading frame have identified mutations in 80% of the families with X-linked inheritance. However, in many patients the underlying genetic defect remains undetected by these techniques. Using RNA diagnostics we have now identified a duplication of the MID1 first exon in a patient with X-linked Opitz G/BBB syndrome. This duplication introduces a premature termination codon. In addition, we could significantly lower the threshold for mutation detection on the DNA level by combining SSCP analysis with DHPLC technology.