PMID- 10094562
OWN - NLM
STAT- MEDLINE
DCOM- 19990323
LR  - 20161124
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 13
IP  - 2
DP  - 1999
TI  - Identification of CYP21 mutations, one novel, by single strand conformational
      polymorphism (SSCP) analysis. Mutations in brief no. 218. Online.
PG  - 172
AB  - Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common
      autosomal recessive disorder (MIM# 201910) due to mutations in the 21-hydroxylase
      (CYP21) gene (GDB Accession # M12792). Using our protocol for single strand
      conformational polymorphism (SSCP) analysis, we have identified two mutations not
      known to exist in the 21-hydroxylase pseudogene (CYP21P). One mutation involving 
      codon 169, TGC to AC appears to be novel. The 46,XX patient carried the codon 169
      mutation on her paternal allele and a large gene deletion/conversion event on her
      maternal allele. This patient had been referred in the immediate neonatal period 
      for the evaluation of genital ambiguity and had developed hyponatremia and
      hyperkalemia. The second patient presented with premature pubic hair. She carried
      R356Q on her maternal allele and V281L on her paternal allele.
FAU - Witchel, S F
AU  - Witchel SF
AD  - Department of Endocrinology, Children's Hospital of Pittsburgh, University of
      Pittsburgh, PA 15213, USA.
FAU - Smith, R
AU  - Smith R
FAU - Suda-Hartman, M
AU  - Suda-Hartman M
LA  - eng
GR  - HD34808/HD/NICHD NIH HHS/United States
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
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/enzymology/genetics
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Mutation/*genetics
MH  - *Polymorphism, Single-Stranded Conformational
MH  - Steroid 21-Hydroxylase/*genetics
EDAT- 1999/03/27 03:12
MHDA- 2000/06/22 10:00
CRDT- 1999/03/27 03:12
PHST- 1999/03/27 03:12 [pubmed]
PHST- 2000/06/22 10:00 [medline]
PHST- 1999/03/27 03:12 [entrez]
AID - 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N [pii]
AID - 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N [doi]
PST - ppublish
SO  - Hum Mutat. 1999;13(2):172. doi:
      10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N.