PMID- 10364682
OWN - NLM
STAT- MEDLINE
DCOM- 19990707
LR  - 20171101
IS  - 0001-5652 (Print)
IS  - 0001-5652 (Linking)
VI  - 49
IP  - 3
DP  - 1999 Jun
TI  - Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish 
      population: identification of putative novel steroid 21-hydroxylase deficiency
      alleles associated with the classic form of the disease.
PG  - 169-75
AB  - Steroid 21-hydroxylase deficiency, due to the genetic impairment of the CYP21
      gene, is a major cause of congenital adrenal hyperplasia (CAH). In about 80% of
      the cases, the defect is related with the transfer of deleterious point mutations
      from the CYP21P pseudogene to the active CYP21 gene. Sixteen different point
      mutations have been searched for in 60 Spanish patients with the classic form of 
      CAH and 171 unaffected family members, using selective amplification of the CYP21
      gene followed by allele-specific oligonucleotide hybridization (PCR-ASOH) and
      sequencing analysis. While 31.9% of the disease alleles carry CYP21 deletions or 
      large gene conversions, around 58% of the alleles carry single point mutations.
      Corresponding segregation of mutations was found in every case indicating that
      none of them has apparently appeared de novo. The most frequent mutations found
      in our sample are i2G, V281L, R356W, Q318X, P453S and F306+t, with rates of 30,
      14.2, 10, 9.2, 9.2 and 7. 5%, respectively. We found similar frequencies for the 
      A and C polymorphism at position 656 (40 and 31.5%, respectively) in wild-type
      alleles for the i2G mutation. Around 10% of the alleles, for which no mutations
      were identified by searching for the sixteen previously known mutations, are
      currently being sequenced and new possible mutations and polymorphisms have been 
      identified.
FAU - Lobato, M N
AU  - Lobato MN
AD  - Centre de Investigacions en Bioquimica i Biologia Molecular, Hospitals Vall
      d'Hebron, Barcelona, Spain.
FAU - Ordonez-Sanchez, M L
AU  - Ordonez-Sanchez ML
FAU - Tusie-Luna, M T
AU  - Tusie-Luna MT
FAU - Meseguer, A
AU  - Meseguer A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Hum Hered
JT  - Human heredity
JID - 0200525
RN  - 9007-49-2 (DNA)
RN  - EC 1.14.14.16 (Steroid 21-Hydroxylase)
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/enzymology/*genetics
MH  - Alleles
MH  - Amino Acid Substitution
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Gene Frequency
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Phenotype
MH  - Point Mutation
MH  - Spain
MH  - Steroid 21-Hydroxylase/genetics
EDAT- 1999/06/12 00:00
MHDA- 1999/06/12 00:01
CRDT- 1999/06/12 00:00
PHST- 1999/06/12 00:00 [pubmed]
PHST- 1999/06/12 00:01 [medline]
PHST- 1999/06/12 00:00 [entrez]
AID - 22866 [pii]
AID - 10.1159/000022866 [doi]
PST - ppublish
SO  - Hum Hered. 1999 Jun;49(3):169-75. doi: 10.1159/000022866.