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

Winter, Jennifer; Lehmann, Tanja; Suckow, Vanessa; Kijas, Zofia; Kulozik, Andreas; Kalscheuer, Vera; Hamel, Ben; Devriendt, Koen; Opitz, John; Lenzner, Steffen; Ropers, Hans-Hilger; Schweiger, Susann

doi:10.1007/s00439-002-0901-5

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

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.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8A91-8 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-8A92-6

Genre: Journal Article

Alternative Title : Hum. Genet.

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Creators:
Winter, Jennifer¹, Author
Lehmann, Tanja², Author
Suckow, Vanessa³, Author
Kijas, Zofia, Author
Kulozik, Andreas, Author
Kalscheuer, Vera⁴, Author
Hamel, Ben, Author
Devriendt, Koen, Author
Opitz, John, Author
Lenzner, Steffen², Author
Ropers, Hans-Hilger¹, Author
Schweiger, Susann¹, Author

Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549
2Max Planck Society, ou_persistent13
3Signal 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, ou_1479646
4Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642

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Abstract: 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.

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Language(s): eng - English

Dates: Date issued: 2003-03

Publication Status: Issued

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Identifiers: eDoc: 173649
ISI: 000181792500006
DOI: 10.1007/s00439-002-0901-5

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Title: Human Genetics

Alternative Title : Hum. Genet.

Source Genre: Journal

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Pages: - Volume / Issue: 112 (3) Sequence Number: - Start / End Page: 249 - 254 Identifier: ISSN: 0340-6717