Linked Life Data

2052622

Source:http://linkedlifedata.com/resource/pubmed/id/2052622

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1991-7-19
pubmed:abstractText
Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here we show that a 52-year-old postmenopausal woman with severe osteopenia and a compression fracture of a thoracic vertebra had a mutation in the gene for the alpha 2(I) chain of type I collagen (COL1A2) similar to mutations that cause OI. cDNA was prepared from the woman's skin fibroblast RNA and assayed for the presence of a mutation by treating DNA heteroduplexes with carbodiimide. The results indicated a sequence variation in the region encoding amino acid residues 660-667 of the alpha 2(I) chain. Further analysis demonstrated a single-base mutation that caused a serine-for-glycine substitution at position 661 of the alpha 2(I) triple-helical domain. The substitution produced posttranslational overmodification of the collagen triple helix, as is seen with most glycine substitutions that cause OI. The patient had a history of five previous fractures, slightly blue sclerae, and slight hearing loss. Therefore, the results suggest that there may be phenotypic and genotypic overlap between mild osteogenesis imperfecta and postmenopausal osteoporosis, and that a subset of women with postmenopausal osteoporosis may have mutations in the genes for type I procollagen.
pubmed:grant
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2010058, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2203776, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2238087, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2363677, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2374715, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2511192, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2605936, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-271968, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2915666, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-2999980, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-3198624, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-3345218, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-3421913, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-3519258, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-3520321, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-6087329, http://linkedlifedata.com/resource/pubmed/commentcorrection/2052622-6198242
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0027-8424
pubmed:author
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
88
pubmed:geneSymbol
COL1A2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
5423-7
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1991
pubmed:articleTitle
Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta.
pubmed:affiliation
Department of Biochemistry and Molecular Biology, Jefferson Institute of Molecular Medicine, Jefferson Medical College, Philadelphia, PA 19107-6799.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't