Document Detail


Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online.
MedLine Citation:
PMID:  10694924     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A heterozygous deletion of exon 9 in the COL1A2-mRNA of a patient with symptoms of both the Ehlers-Danlos-Syndrome and the Osteogensis Imperfecta is described. In the genomic DNA of the patient, exon 9 is homozygously present. We identified a novel heterozygous point mutation in the splice donor site of intron 9, leading to a G-->A substitution in position +5. This mutation leads to heterozygous skipping of exon 9 in the COL1A2-mRNA of this patient. The deletion results in a shortened (by 18 amino acids) but in frame 12(1) chain, which probably leads to the formation of abberantly processed triple helices.
Authors:
S Feshchenko; J Brinckmann; H W Lehmann; H G Koch; P K Müller; S Kügler
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Human mutation     Volume:  12     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1998  
Date Detail:
Created Date:  2000-01-18     Completed Date:  2000-01-18     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  138     Citation Subset:  IM    
Affiliation:
Institut fr Medizinische Molekularbiologie, Medizinische Universität zu Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany.
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MeSH Terms
Descriptor/Qualifier:
Alternative Splicing
Collagen / genetics*
Ehlers-Danlos Syndrome / genetics
Exons / genetics*
Heterozygote Detection
Humans
Joint Instability / genetics*
Osteogenesis Imperfecta / genetics
Point Mutation / genetics*
Chemical
Reg. No./Substance:
9007-34-5/Collagen

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


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