PMID- 31317337
OWN - NLM
STAT- MEDLINE
DCOM- 20200507
LR  - 20200507
IS  - 1179-2000 (Electronic)
IS  - 1177-1062 (Linking)
VI  - 23
IP  - 5
DP  - 2019 Oct
TI  - Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis 
      of 21-Hydroxylase Deficiency.
PG  - 563-567
LID - 10.1007/s40291-019-00415-z [doi]
AB  - More than 95% of congenital adrenal hyperplasia (CAH) cases are associated with 
      mutations in the 21-hydroxylase gene (CYP21A2) in the human leukocyte antigen 
      (HLA) class III area on the short arm of chromosome 6p21.3. In the diagnosis of 
      21-hydroxylase deficiency, CYP21A2 genotyping is a valuable complement to 
      biochemical investigations. Genotyping can confirm the diagnosis (or carrier 
      state) and, at the same time, provide accurate phenotype prediction in patients 
      carrying severe mutations. In addition, the use of genetic testing is also 
      helpful in prenatal diagnosis where the goal of prenatal treatment is preventing 
      genital virilization of the female fetus. An in-depth knowledge of CYP21A2 
      genetics is essential to assure the correct interpretation of results obtained. 
      To date, more than 200 small pathogenic variants of the CYP21A2 gene have been 
      reported, showing good agreement between clinical phenotype and patient genotype. 
      Recently, novel CYP21A2 deletions, involving one or more exons, have been 
      reported in different populations. Since these rearrangements have never been 
      described before in the genetic history of 21-hydroxylase deficiency, these new 
      deletions have aroused particular interest. However, it is possible that these 
      novel rearrangements are the result of incorrect interpretation of multiplex 
      ligation-dependent probe amplification (MLPA).
FAU - Concolino, Paola
AU  - Concolino P
AUID- ORCID: 0000-0002-3472-8898
AD  - Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168, 
      Rome, Italy. paola.concolino@policlinicogemelli.it.
LA  - eng
PT  - Letter
PT  - Meta-Analysis
PL  - New Zealand
TA  - Mol Diagn Ther
JT  - Molecular diagnosis & therapy
JID - 101264260
RN  - Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
SB  - IM
MH  - Adrenal Hyperplasia, Congenital/*diagnosis/*genetics
MH  - *Gene Rearrangement
MH  - *Genetic Association Studies/methods
MH  - *Genetic Predisposition to Disease
MH  - Genetic Testing
MH  - *Genetic Variation
MH  - *Genomics/methods
MH  - Humans
MH  - Molecular Diagnostic Techniques
EDAT- 2019/07/19 06:00
MHDA- 2020/05/08 06:00
CRDT- 2019/07/19 06:00
PHST- 2019/07/19 06:00 [pubmed]
PHST- 2020/05/08 06:00 [medline]
PHST- 2019/07/19 06:00 [entrez]
AID - 10.1007/s40291-019-00415-z [pii]
AID - 10.1007/s40291-019-00415-z [doi]
PST - ppublish
SO  - Mol Diagn Ther. 2019 Oct;23(5):563-567. doi: 10.1007/s40291-019-00415-z.