PMID- 10627137
OWN - NLM
STAT- MEDLINE
DCOM- 20000105
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 1
DP  - 1998
TI  - Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in 
      COL1A1 and genes. Mutations in brief no. 152. Online.
PG  - 71-2
AB  - 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.
FAU - Mottes, M
AU  - Mottes M
AD  - Institute of Biology and Genetics, Universita di Verona, Italy.
      mottes@borgoroma.univ.it
FAU - Gomez Lira, M
AU  - Gomez Lira M
FAU - Zolezzi, F
AU  - Zolezzi F
FAU - Valli, M
AU  - Valli M
FAU - Lisi, V
AU  - Lisi V
FAU - Freising, P
AU  - Freising P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 9007-34-5 (Collagen)
RN  - TE7660XO1C (Glycine)
SB  - IM
MH  - Amino Acid Substitution
MH  - Collagen/*genetics
MH  - *Genes, Lethal
MH  - *Glycine
MH  - Humans
MH  - Osteogenesis Imperfecta/*genetics/*mortality
EDAT- 2000/01/08 09:00
MHDA- 2000/06/22 10:00
CRDT- 2000/01/08 09:00
PHST- 2000/01/08 09:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 2000/01/08 09:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU14>3.0.CO;2-A [pii]
AID - 10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4 [doi]
PST - ppublish
SO  - Hum Mutat. 1998;12(1):71-2. doi:
      10.1002/(SICI)1098-1004(1998)12:1<71::AID-HUMU16>3.0.CO;2-4.