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    
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.
S Feshchenko; J Brinckmann; H W Lehmann; H G Koch; P K Müller; S Kügler
Related Documents :
8943874 - Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band ...
19821094 - Genetic mutation of vitamin k-dependent gamma-glutamyl carboxylase domain in patients w...
9207444 - Phenotypic consequences of mutations in the fanconi anemia fac gene: an international f...
20664694 - A novel pax6 mutation in a large chinese family with aniridia and congenital cataract.
22949514 - Expression of smarcb1 (ini1) mutations in familial schwannomatosis.
19580554 - Experimental game theory and behavior genetics.
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    
Institut fr Medizinische Molekularbiologie, Medizinische Universität zu Lübeck, Ratzeburger Allee 160, D-23538 Lübeck, Germany.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Alternative Splicing
Collagen / genetics*
Ehlers-Danlos Syndrome / genetics
Exons / genetics*
Heterozygote Detection
Joint Instability / genetics*
Osteogenesis Imperfecta / genetics
Point Mutation / genetics*
Reg. No./Substance:

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

Previous Document:  C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabe...
Next Document:  Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief n...