Document Detail


A new osteogenesis imperfecta with improvement over time maps to 11q.
MedLine Citation:
PMID:  18553516     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Osteogenesis imperfecta (OI) is basically divided into four clinical types, I-IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family. They would typically be classified as having type IV, but are distinguishable from other OI type IV patients by the improving and resolving course of their disease. Mutation screening did not identify mutations affecting glycine codons or splice sites in the coding regions of the two collagen I genes. Genome-wide screening of DNA samples from the two homozygous patients identified one region of high concordance of homozygosity on chromosome 11 on the long arm (11q23.3-11q24.1).
Authors:
Agnès Kamoun-Goldrat; Stéphanie Pannier; Céline Huber; Georges Finidori; Arnold Munnich; Valérie Cormier-Daire; Martine Le Merrer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-23     Completed Date:  2008-08-20     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1807-14     Citation Subset:  IM    
Copyright Information:
2008 Wiley-Liss, Inc.
Affiliation:
Paris Descartes University, Inserm U781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France. agnes.kamoun@yahoo.fr
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Chromosome Mapping
Chromosomes, Human, Pair 11 / genetics*
Collagen / genetics
Collagen Type I / genetics
Consanguinity
Female
Genes, Recessive
Genotype
Homozygote
Humans
Male
Mutation
Osteogenesis Imperfecta / classification,  genetics*,  radiography
Pedigree
Phenotype
Chemical
Reg. No./Substance:
0/Collagen Type I; 0/alpha 2(I) collagen; 0/collagen type I, alpha 1 chain; 9007-34-5/Collagen

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


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