PMID- 10408781
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20180411
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 6
DP  - 1999
TI  - Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map
      in OI type III. Mutations in brief no. 242. Online.
PG  - 503
AB  - Non-lethal OI III (OMIM 259420) is caused by structural aberrations of collagen
      I. We report four novel glycine substitutions, one in the a1 (I) chain of
      collagen I (G688S) and three in the a2 (I) chain (G241D, G247C, G883V). In each
      of two families (G241D and G883V), we found parental mosaicism for the
      substitution explaining recurrence and intrafamilial variability of OI. The G247C
      and the G883V are the most N-terminally and C-terminally, respectively, placed
      cysteine and valine substitutions reported. The new substitutions add important
      information to the genotype-phenotype map and in particular the importance of
      a-chain stoichiometry is underlined. Data regarding the G688S substitution may
      suggest a different effect of the two a-chains in the development of
      dentinogenesis imperfecta (DI).
FAU - Lund, A M
AU  - Lund AM
AD  - Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
      Lund@Biobase.dk
FAU - Astrom, E
AU  - Astrom E
FAU - Soderhall, S
AU  - Soderhall S
FAU - Schwartz, M
AU  - Schwartz M
FAU - Skovby, F
AU  - Skovby F
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
SB  - IM
MH  - Chromosome Mapping
MH  - Genotype
MH  - Humans
MH  - *Mosaicism
MH  - Osteogenesis Imperfecta/*genetics
MH  - Phenotype
MH  - Point Mutation
EDAT- 1999/07/17 10:00
MHDA- 2000/06/22 10:00
CRDT- 1999/07/17 10:00
PHST- 1999/07/17 10:00 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/07/17 10:00 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU13>3.0.CO;2-F [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU11>3.0.CO;2-L [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(6):503. doi:
      10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU11>3.0.CO;2-L.