PMID- 10408778
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20161124
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 6
DP  - 1999
TI  - Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel
      mutations, and in vitro expression analysis.
PG  - 482-6
AB  - We have investigated 68 unrelated 21-hydroxylase deficient Danish patients,
      representing 136 alleles, and determined the mutational spectrum of the CYP21
      gene. The most frequent mutations detected were deletion of CYP21 and the splice 
      mutation in intron 2 (I2-splice). Segregation analysis showed evidence of a de
      novo mutation in each of two patients. Three novel mutations were detected: G64E 
      in exon 1, Q262X in exon 7, and A362V in exon 8. G64E and A362V were introduced
      in the CYP21 cDNA by in vitro site-directed mutagenesis, and the two
      corresponding proteins were transiently expressed in COS-7 cells. The activity of
      21-hydroxylase was determined using the two hormone substrates
      17-hydroxyprogesterone and progesterone. The analysis showed no enzyme activity
      for any of the substrates, a result that correlates well with the severity of the
      patients' disease.
FAU - Ohlsson, G
AU  - Ohlsson G
AD  - Department of Clinical Genetics, University Hospital of Copenhagen,
      Rigshospitalet, Denmark. olsson@biobase.dk
FAU - Muller, J
AU  - Muller J
FAU - Skakkebaek, N E
AU  - Skakkebaek NE
FAU - Schwartz, M
AU  - Schwartz M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA, Complementary)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - *Adrenal Hyperplasia, Congenital
MH  - Animals
MH  - COS Cells
MH  - DNA, Complementary/metabolism
MH  - Denmark
MH  - Frameshift Mutation
MH  - Gene Deletion
MH  - Gene Expression
MH  - Genotype
MH  - Humans
MH  - Mutagenesis, Site-Directed
MH  - *Mutation
MH  - Point Mutation
MH  - Steroid 21-Hydroxylase/*genetics
MH  - Transfection
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<482::AID-HUMU8>3.0.CO;2-0 [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:6<482::AID-HUMU8>3.0.CO;2-0 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(6):482-6. doi:
      10.1002/(SICI)1098-1004(1999)13:6<482::AID-HUMU8>3.0.CO;2-0.