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

Item Type:Article
Title:Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
Creators Name:Winter, J. and Lehmann, T. and Suckow, V. and Kijas, Z. and Kulozik, A. and Kalscheuer, V. and Hamel, B. and Devriendt, K. and Opitz, J. and Lenzner, S. and Ropers, H.H. and Schweiger, S.
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.
Keywords:Exons, Gene Duplication, Ligases, Microtubule Proteins, Northern Blotting, Nuclear Proteins, Reverse Transcriptase Polymerase Chain Reaction, Single-Stranded Conformational Polymorphism, Smith-Lemli-Opitz Syndrome, Southern Blotting, Transcription Factors
Source:Human Genetics
ISSN:0340-6717
Publisher:Springer (Germany)
Volume:112
Number:3
Page Range:249-254
Date:March 2003
Official Publication:http://link.springer.com/article/10.1007/s00439-002-0901-5
PubMed:View item in PubMed

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