Linked Life Data

1301191

Source:http://linkedlifedata.com/resource/pubmed/id/1301191

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
1993-5-28
pubmed:abstractText
We have determined that a man, ascertained because he fathered a child with lethal osteogenesis imperfecta (OI) with each of two partners, is mosaic in both his germline and somatic tissues for a mutation in the COL1A2 gene which encodes the pro alpha 2(I) chain of type I procollagen. His dermal fibroblasts were previously shown to synthesize a population of cysteine-containing alpha 2(I) chains that were posttranslationally overmodified. DNA sequence analysis of COL1A2 cDNAs demonstrated that the cysteine-containing chain resulted from a point mutation (G to T) in the first position of the codon for the glycine at residue 472 of the triple helical domain. Genomic DNA from the one available affected infant contained the mutant and normal COL1A2 alleles in equal proportion. Examination of DNA from several tissues of the father showed that the mutant allele was present in approximately 40% of his sperm, 80% of his lymphocytes, and nearly 100% of his dermal fibroblasts. Despite the high level of mosaicism detected in somatic tissues, the only phenotypic manifestation of OI in the proband was that he was shorter than his unaffected male relatives and had mild dentinogenesis imperfecta. Thermal stability of type I collagen molecules containing the substitution was decreased, but to a lesser extent than for a nonlethal cysteine for glycine substitution at residue 259 of alpha 2(I), indicating that this measure of molecular stability may be of limited use in explaining the pathogenesis of osteogenesis imperfecta.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1059-7794
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:geneSymbol
COL1A2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
47-54
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:1301191-Adult, pubmed-meshheading:1301191-Amino Acid Sequence, pubmed-meshheading:1301191-Base Sequence, pubmed-meshheading:1301191-Cells, Cultured, pubmed-meshheading:1301191-Collagen, pubmed-meshheading:1301191-Cysteine, pubmed-meshheading:1301191-DNA, pubmed-meshheading:1301191-Female, pubmed-meshheading:1301191-Fibroblasts, pubmed-meshheading:1301191-Genes, Lethal, pubmed-meshheading:1301191-Glycine, pubmed-meshheading:1301191-Humans, pubmed-meshheading:1301191-Infant, Newborn, pubmed-meshheading:1301191-Macromolecular Substances, pubmed-meshheading:1301191-Male, pubmed-meshheading:1301191-Molecular Sequence Data, pubmed-meshheading:1301191-Mosaicism, pubmed-meshheading:1301191-Mutation, pubmed-meshheading:1301191-Oligodeoxyribonucleotides, pubmed-meshheading:1301191-Osteogenesis Imperfecta, pubmed-meshheading:1301191-Pedigree, pubmed-meshheading:1301191-Phenotype, pubmed-meshheading:1301191-Polymerase Chain Reaction, pubmed-meshheading:1301191-Protein Denaturation, pubmed-meshheading:1301191-Sequence Homology, Amino Acid, pubmed-meshheading:1301191-Skin
pubmed:year
1992
pubmed:articleTitle
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.
pubmed:affiliation
Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars Sinai Medical Center, Los Angeles, California 90048.
pubmed:publicationType
Journal Article, Comparative Study, Research Support, U.S. Gov't, P.H.S., Case Reports, Research Support, Non-U.S. Gov't