PMID- 10496074
OWN - NLM
STAT- MEDLINE
DCOM- 19991020
LR  - 20211203
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 44
IP  - 5
DP  - 1999
TI  - Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
PG  - 312-7
AB  - We have designed a rapid and convenient strategy to determine nine of the most
      common mutations in the 21-hydroxylase gene (CYP21). The frequency of the
      mutations was investigated in 34 Japanese patients affected with congenital
      adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency. We characterized
      82% of the CAH chromosomes. The most frequent mutations were a C/A to G
      substitution in intron 2 in the salt-wasting form of the disease and an I172N in 
      the simple virilizing form. Three de novo mutations were found. Two homozygous
      mutations (S268T and N493S) were detected by direct sequencing of all exons of
      CYP21 in two siblings, who had a normal genotype at all positions screened. We
      successfully applied these methods for prenatal diagnosis in one family. These
      procedures proved to be sensitive and rapid for the detection of the most common 
      known mutations in the CYP21 gene and may be useful for genetic screening.
FAU - Asanuma, A
AU  - Asanuma A
AD  - Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
FAU - Ohura, T
AU  - Ohura T
FAU - Ogawa, E
AU  - Ogawa E
FAU - Sato, S
AU  - Sato S
FAU - Igarashi, Y
AU  - Igarashi Y
FAU - Matsubara, Y
AU  - Matsubara Y
FAU - Iinuma, K
AU  - Iinuma K
LA  - eng
PT  - Journal Article
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (DNA Primers)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/*enzymology/*genetics
MH  - Amino Acid Sequence
MH  - Asians/*genetics
MH  - Base Sequence
MH  - DNA Primers
MH  - Exons
MH  - Female
MH  - *Gene Deletion
MH  - Humans
MH  - Japan
MH  - Male
MH  - Pedigree
MH  - *Point Mutation
MH  - Polymerase Chain Reaction
MH  - Steroid 21-Hydroxylase/*genetics
EDAT- 1999/09/25 00:00
MHDA- 1999/09/25 00:01
CRDT- 1999/09/25 00:00
PHST- 1999/09/25 00:00 [pubmed]
PHST- 1999/09/25 00:01 [medline]
PHST- 1999/09/25 00:00 [entrez]
AID - 10.1007/s100380050167 [doi]
PST - ppublish
SO  - J Hum Genet. 1999;44(5):312-7. doi: 10.1007/s100380050167.