PMID- 10408786
OWN - NLM
STAT- MEDLINE
DCOM- 19991103
LR  - 20161124
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 6
DP  - 1999
TI  - A rapid screening for steroid 21-hydroxylase mutations in patients with
      congenital adrenal hyperplasia. Mutations in brief no. 247. Online.
PG  - 505
AB  - Steroid 21-hydroxylase deficiency is the major cause of congenital adrenal
      hyperplasia (CAH). CAH due to 21-hydroxylase deficiency is divided into three
      classes: salt-wasting (classical), non-classical and simple virilizing,
      reflecting different degrees of clinical severity. Using polymerase chain
      reaction (PCR) and allele-specific oligonucleotide hybridisation (ASO), we
      screened the DNA of 62 Caucasian CAH families (heterozygous parents and children)
      for 14 different and frequently-found CYP21-mutations (HGMD). Of the 62 patients 
      (21 males, 41 females), 26 females and 11 males had the classical or salt-wasting
      form, 3 females and 1 male had the non-classical form and 14 females and 7 males 
      had simple virilizing CAH. More than 60% of the patients were
      compound-heterozygous. We found the mutations on 110 alleles (out of 124
      alleles). There were 30 CYP21 gene deletions/conversions, 3 substitutions (P30L) 
      in exon 1, 30 splice mutations (c.93-13A/C>G) in intron 2, 26 point mutations
      (I172N) in exon 4, one cluster of mutations (I236N, V237E, M239K) in exon 6, 8
      mutations (V281L and 1760-1761insT) in exon 7, and 8 nonsense (Q318X) and 4
      missense (R356W) mutations in exon 8. Our study supports the case for using this 
      rapid technique for CAH-family screening as long as alleles from both affected
      patients and parents are screened in parallel.
FAU - Kapelari, K
AU  - Kapelari K
AD  - Institute for General and Experimental Pathology, Department of Molecular
      Pathophysiology, University of Innsbruck Medical School, Austria.
FAU - Ghanaati, Z
AU  - Ghanaati Z
FAU - Wollmann, H
AU  - Wollmann H
FAU - Ventz, M
AU  - Ventz M
FAU - Ranke, M B
AU  - Ranke MB
FAU - Kofler, R
AU  - Kofler R
FAU - Peters, H
AU  - Peters H
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/*genetics
MH  - Alleles
MH  - Alternative Splicing
MH  - Female
MH  - Gene Deletion
MH  - *Genetic Testing
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Mutation, Missense
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Steroid 21-Hydroxylase/*genetics
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<505::AID-HUMU16>3.0.CO;2-0 [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:6<505::AID-HUMU16>3.0.CO;2-0 [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(6):505. doi:
      10.1002/(SICI)1098-1004(1999)13:6<505::AID-HUMU16>3.0.CO;2-0.