Title: Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome
Authors: Winter, J ×
Lehmann, T
Suckow, V
Kijas, Z
Kulozik, A
Kalscheuer, V
Hamel, B
Devriendt, Koenraad
Opitz, J
Lenzner, S
Ropers, HH
Schweiger, S #
Issue Date: Mar-2003
Publisher: Springer
Series Title: Human Genetics vol:112 issue:3 pages:249-254
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 MIDI 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.
ISSN: 0340-6717
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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