Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
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.
Winter
Jennifer
J
Max Planck Institute for Molecular Genetics, Berlin, Germany.
Lehmann
Tanja
T
Suckow
Vanessa
V
Kijas
Zofia
Z
Kulozik
Andreas
A
Kalscheuer
Vera
V
Hamel
Ben
B
Devriendt
Koen
K
Opitz
John
J
Lenzner
Steffen
S
Ropers
Hans-Hilger
HH
Schweiger
Susann
S
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
D008868:Microtubule Proteins; D009687:Nuclear Proteins; D014157:Transcription Factors; C109052:MID1 protein, human; D044767:Ubiquitin-Protein Ligases; D008025:Ligases