Document Detail

A new osteogenesis imperfecta with improvement over time maps to 11q.
MedLine Citation:
PMID:  18553516     Owner:  NLM     Status:  MEDLINE    
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).
Agnès Kamoun-Goldrat; Stéphanie Pannier; Céline Huber; Georges Finidori; Arnold Munnich; Valérie Cormier-Daire; Martine Le Merrer
Related Documents :
16402916 - Inefficient coupling between proton transport and atp synthesis may be the pathogenic m...
11260246 - Characterization of the desmosomal cadherin gene family: genomic organization of two de...
14648196 - Small deletions disturb desmin architecture leading to breakdown of muscle cells and de...
18466076 - A new silent germline mutation of the tsh receptor: coexpression in a hyperthyroid fami...
16727436 - Manipulation of chromosome condensation by protein synthesis inhibitors and cyclic amp ...
10951526 - Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 ...
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.
Paris Descartes University, Inserm U781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 11 / genetics*
Collagen / genetics
Collagen Type I / genetics
Genes, Recessive
Osteogenesis Imperfecta / classification,  genetics*,  radiography
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

Previous Document:  Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibil...
Next Document:  Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs.