PMID- 27896104
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200930
IS  - 2214-4269 (Print)
IS  - 2214-4269 (Electronic)
IS  - 2214-4269 (Linking)
VI  - 1
DP  - 2014
TI  - Novel method to characterize CYP21A2 in Florida patients with congenital adrenal 
      hyperplasia and commercially available cell lines.
PG  - 312-323
AB  - Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder and 
      affects approximately 1 in 15,000 births in the United States. CAH is one of the 
      disorders included on the Newborn Screening (NBS) Recommended Uniform Screening 
      Panel. The commonly used immunological NBS test is associated with a high false 
      positive rate and there is interest in developing second-tier assays to increase 
      screening specificity. Approximately 90% of the classic forms of CAH, 
      salt-wasting and simple virilizing, are due to mutations in the CYP21A2 gene. 
      These include single nucleotide changes, insertions, deletions, as well as 
      chimeric genes involving CYP21A2 and its highly homologous pseudogene CYP21A1P. A 
      novel loci-specific PCR approach was developed to individually amplify the 
      CYP21A2 gene, the nearby CYP21A1P pseudogene, as well as any 30 kb deletion and 
      gene conversion mutations, if present, as single separate amplicons. Using 
      commercially available CAH positive specimens and 14 families with an affected 
      CAH proband, the single long-range amplicon approach demonstrated higher 
      specificity as compared to previously published methods.
FAU - Greene, Christopher N
AU  - Greene CN
AD  - U.S. Centers for Disease Control and Prevention, National Center for 
      Environmental Health, Division of Laboratory Sciences, Newborn Screening and 
      Molecular Biology Branch, Atlanta, GA, United States.
FAU - Cordovado, Suzanne K
AU  - Cordovado SK
AD  - U.S. Centers for Disease Control and Prevention, National Center for 
      Environmental Health, Division of Laboratory Sciences, Newborn Screening and 
      Molecular Biology Branch, Atlanta, GA, United States.
FAU - Turner, Daniel P
AU  - Turner DP
AD  - U.S. Centers for Disease Control and Prevention, National Center for 
      Environmental Health, Division of Laboratory Sciences, Newborn Screening and 
      Molecular Biology Branch, Atlanta, GA, United States.
FAU - Keong, Lisa M
AU  - Keong LM
AD  - U.S. Centers for Disease Control and Prevention, National Center for 
      Environmental Health, Division of Laboratory Sciences, Newborn Screening and 
      Molecular Biology Branch, Atlanta, GA, United States.
FAU - Shulman, Dorothy
AU  - Shulman D
AD  - University of South Florida, Department of Pediatrics, Tampa, FL, United States; 
      All Children's Hospital, St. Petersburg, FL, United States.
FAU - Mueller, Patricia W
AU  - Mueller PW
AD  - U.S. Centers for Disease Control and Prevention, National Center for 
      Environmental Health, Division of Laboratory Sciences, Newborn Screening and 
      Molecular Biology Branch, Atlanta, GA, United States.
LA  - eng
PT  - Journal Article
DEP - 20140808
PL  - United States
TA  - Mol Genet Metab Rep
JT  - Molecular genetics and metabolism reports
JID - 101624422
PMC - PMC5121304
OTO - NOTNLM
OT  - CYP21A2
OT  - Congenital adrenal hyperplasia
OT  - DNA sequence
OT  - Mutation analysis
EDAT- 2014/08/08 00:00
MHDA- 2014/08/08 00:01
PMCR- 2014/08/08
CRDT- 2016/11/30 06:00
PHST- 2014/05/14 00:00 [received]
PHST- 2014/07/08 00:00 [revised]
PHST- 2014/07/08 00:00 [accepted]
PHST- 2016/11/30 06:00 [entrez]
PHST- 2014/08/08 00:00 [pubmed]
PHST- 2014/08/08 00:01 [medline]
PHST- 2014/08/08 00:00 [pmc-release]
AID - S2214-4269(14)00044-5 [pii]
AID - 10.1016/j.ymgmr.2014.07.002 [doi]
PST - epublish
SO  - Mol Genet Metab Rep. 2014 Aug 8;1:312-323. doi: 10.1016/j.ymgmr.2014.07.002. 
      eCollection 2014.