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Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online.
Hum Mutat. 1998; 12(1):71-2.HM

Abstract

Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes. Here we describe the molecular defects responsible for four case of lethal OI. Two glycine substitutions within the COL1A1 gene (G478S, G994D) and two glycine substitutions within the COLIA2 gene (G319V, G697C) were identified. The mutation sites were localized in proalpha2(I) and proalpha2(I)mRNA molecules, respectively, by chemical cleavage of mismatch in hereteroduplex nucleic acids. Subsequent reverse transcription PCR amplification, cloning and sequencing, led to mutation identification. The aminoacid substitutions were due to two G-->A transitions in COL1A1(cases 1,2), to a G-->T transversion in COL1A2 (case 3), and to two contiguous point mutations in COL1A2 (case 4). All five nucleotide changes appeared to be fresh mutations. COLIA1(accession number Z74615) and COL1A2(accession number Z74616) wild type coding sequences (cDNA) were deduced from the EMBL DNA sequence database. The mutations described here can also be found in the human type I collagen mutation database at the web site:http://www.le.ac.uk/genetics/collagen.

Authors+Show Affiliations

Institute of Biology and Genetics, Universitá di Verona, Italy. mottes@borgoroma.univ.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10627137

Citation

Mottes, M, et al. "Four New Cases of Lethal Osteogenesis Imperfecta Due to Glycine Substitutions in COL1A1 and Genes. Mutations in Brief No. 152. Online." Human Mutation, vol. 12, no. 1, 1998, pp. 71-2.
Mottes M, Gomez Lira M, Zolezzi F, et al. Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online. Hum Mutat. 1998;12(1):71-2.
Mottes, M., Gomez Lira, M., Zolezzi, F., Valli, M., Lisi, V., & Freising, P. (1998). Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online. Human Mutation, 12(1), 71-2.
Mottes M, et al. Four New Cases of Lethal Osteogenesis Imperfecta Due to Glycine Substitutions in COL1A1 and Genes. Mutations in Brief No. 152. Online. Hum Mutat. 1998;12(1):71-2. PubMed PMID: 10627137.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes. Mutations in brief no. 152. Online. AU - Mottes,M, AU - Gomez Lira,M, AU - Zolezzi,F, AU - Valli,M, AU - Lisi,V, AU - Freising,P, PY - 2000/1/8/pubmed PY - 2000/6/22/medline PY - 2000/1/8/entrez SP - 71 EP - 2 JF - Human mutation JO - Hum Mutat VL - 12 IS - 1 N2 - Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes. Here we describe the molecular defects responsible for four case of lethal OI. Two glycine substitutions within the COL1A1 gene (G478S, G994D) and two glycine substitutions within the COLIA2 gene (G319V, G697C) were identified. The mutation sites were localized in proalpha2(I) and proalpha2(I)mRNA molecules, respectively, by chemical cleavage of mismatch in hereteroduplex nucleic acids. Subsequent reverse transcription PCR amplification, cloning and sequencing, led to mutation identification. The aminoacid substitutions were due to two G-->A transitions in COL1A1(cases 1,2), to a G-->T transversion in COL1A2 (case 3), and to two contiguous point mutations in COL1A2 (case 4). All five nucleotide changes appeared to be fresh mutations. COLIA1(accession number Z74615) and COL1A2(accession number Z74616) wild type coding sequences (cDNA) were deduced from the EMBL DNA sequence database. The mutations described here can also be found in the human type I collagen mutation database at the web site:http://www.le.ac.uk/genetics/collagen. SN - 1059-7794 UR - https://www.unboundmedicine.com/medline/citation/10627137/Four_new_cases_of_lethal_osteogenesis_imperfecta_due_to_glycine_substitutions_in_COL1A1_and_genes__Mutations_in_brief_no__152__Online_ DB - PRIME DP - Unbound Medicine ER -