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Hum Genet. 2003 Mar;112(3):249-54. Epub 2003 Jan 24.

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

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Max Planck Institute for Molecular Genetics, Berlin, Germany.


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.

[Indexed for MEDLINE]

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