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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



  history
ID: 173649.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
Authors: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
Language:English
Date of Publication (YYYY-MM-DD):2003-03
Title of Journal:Human Genetics
Journal Abbrev.:Hum. Genet.
Volume:112
Issue / Number:3
Start Page:249
End Page:254
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
Comment of the Author/Creator:Date: 2003, Mar
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:Max Planck Inst Mol Genet, Berlin, Germany.; Univ Heidelberg Hosp, Heidelberg, Germany.; Univ Nijmegen Hosp, NL-6500 HB Nijmegen, Netherlands.; Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium.; Primary Childrens Med Ctr, Salt Lake City, UT 84103 USA.; Max Delbruck Ctr Mol Med, Berlin, Germany.
Identifiers:ISI:000181792500006 [ID No:1]
ISSN:0340-6717 [ID No:2]
DOI:10.1007/s00439-002-0901-5 [ID No:3]
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