Document Detail


Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
MedLine Citation:
PMID:  12545276     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Jennifer Winter; Tanja Lehmann; Vanessa Suckow; Zofia Kijas; Andreas Kulozik; Vera Kalscheuer; Ben Hamel; Koen Devriendt; John Opitz; Steffen Lenzner; Hans-Hilger Ropers; Susann Schweiger
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-01-24
Journal Detail:
Title:  Human genetics     Volume:  112     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2003 Mar 
Date Detail:
Created Date:  2003-02-21     Completed Date:  2003-04-17     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  249-54     Citation Subset:  IM    
Affiliation:
Max Planck Institute for Molecular Genetics, Berlin, Germany.
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MeSH Terms
Descriptor/Qualifier:
Blotting, Northern
Blotting, Southern
Exons
Female
Gene Duplication*
Humans
Ligases / genetics*
Male
Microtubule Proteins*
Nuclear Proteins*
Polymorphism, Single-Stranded Conformational
Reverse Transcriptase Polymerase Chain Reaction
Smith-Lemli-Opitz Syndrome / genetics*
Transcription Factors / genetics*
Chemical
Reg. No./Substance:
0/Microtubule Proteins; 0/Mid1 protein, human; 0/Nuclear Proteins; 0/Transcription Factors; EC 6.-/Ligases

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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