title: Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
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.
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Winter
authors.forename: Tanja
authors.initials: T
authors.lastname: Lehmann
authors.forename: Vanessa
authors.initials: V
authors.lastname: Suckow
authors.forename: Zofia
authors.initials: Z
authors.lastname: Kijas
authors.forename: Andreas
authors.initials: A
authors.lastname: Kulozik
authors.forename: Vera
authors.initials: V
authors.lastname: Kalscheuer
authors.forename: Ben
authors.initials: B
authors.lastname: Hamel
authors.forename: Koen
authors.initials: K
authors.lastname: Devriendt
authors.forename: John
authors.initials: J
authors.lastname: Opitz
authors.forename: Steffen
authors.initials: S
authors.lastname: Lenzner
authors.forename: Hans-Hilger
authors.initials: HH
authors.lastname: Ropers
authors.forename: Susann
authors.initials: S
authors.lastname: Schweiger
mesh_terms: D015152:Blotting, Northern; D015139:Blotting, Southern; D005091:Exons; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008025:Ligases / Q000235:genetics*; D008297:Male; D008868:Microtubule Proteins; D009687:Nuclear Proteins; D018807:Polymorphism, Single-Stranded Conformational; D020133:Reverse Transcriptase Polymerase Chain Reaction; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
chemical_list: D008868:Microtubule Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases