The pathogenic p.Gln319Ter variant is not causing congenital adrenal hyperplasia when inherited in one of the duplicated CYP21A2 genes.
21-hyrdroxylase deficiency
CAH
CYP21A2
RCCX
gene duplications
Journal
Frontiers in endocrinology
ISSN: 1664-2392
Titre abrégé: Front Endocrinol (Lausanne)
Pays: Switzerland
ID NLM: 101555782
Informations de publication
Date de publication:
2023
2023
Historique:
received:
01
02
2023
accepted:
04
05
2023
medline:
19
6
2023
pubmed:
16
6
2023
entrez:
16
6
2023
Statut:
epublish
Résumé
The study aimed to identify the pathogenic status of p.Gln319Ter (NM_000500.7: c.955C>T) variant when inherited in a single 38 females and 8 males with hyperandrogenemia, previously screened by sequencing and identified as carriers for the pathogenic p.Gln319Ter, were herein tested by multiplex ligation-dependent probe amplification (MLPA) and a real-time PCR Copy number Variation (CNV) assay. Both MLPA and real-time PCR CNV analyses confirmed a bimodular and pathogenic RCCX haplotype with a single The employed methodologies identified a considerable number of individuals with non-pathogenic p.Gln319Ter from the individuals that typically carry the pathogenic p.Gln319Ter in a single
Identifiants
pubmed: 37324257
doi: 10.3389/fendo.2023.1156616
pmc: PMC10266209
doi:
Substances chimiques
Steroid 21-Hydroxylase
EC 1.14.14.16
CYP21A2 protein, human
EC 1.14.14.16
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1156616Informations de copyright
Copyright © 2023 Fanis, Skordis, Toumba, Picolos, Tanteles, Neocleous and Phylactou.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
J Exp Med. 2000 Jun 19;191(12):2183-96
pubmed: 10859342
Int J Endocrinol. 2020 May 15;2020:4329791
pubmed: 32714392
PLoS One. 2008 May 14;3(5):e2138
pubmed: 18478071
Front Endocrinol (Lausanne). 2019 Jul 04;10:432
pubmed: 31333583
Lancet. 2023 Jan 21;401(10372):227-244
pubmed: 36502822
Nature. 2016 Feb 11;530(7589):177-83
pubmed: 26814963
J Clin Endocrinol Metab. 2009 Oct;94(10):3954-8
pubmed: 19773403
Hormones (Athens). 2023 Mar;22(1):71-77
pubmed: 36264454
Endocr Rev. 2000 Jun;21(3):245-91
pubmed: 10857554
Front Endocrinol (Lausanne). 2018 Dec 03;9:733
pubmed: 30559721
J Clin Endocrinol Metab. 1998 Sep;83(9):3357-60
pubmed: 9745454
Clin Genet. 2013 Dec;84(6):585-8
pubmed: 23600966
Mol Diagn Ther. 2018 Jun;22(3):261-280
pubmed: 29450859
Endocr Rev. 2022 Jan 12;43(1):91-159
pubmed: 33961029
Front Endocrinol (Lausanne). 2021 Jul 30;12:709758
pubmed: 34394006
Clin Chem Lab Med. 2008;46(12):1707-13
pubmed: 18973462
Indian J Endocrinol Metab. 2014 Nov;18(Suppl 1):S72-9
pubmed: 25538881
Eur J Hum Genet. 2017 Jun;25(6):702-710
pubmed: 28401898
Hum Genet. 1994 Jul;94(1):50-4
pubmed: 8034294
Front Endocrinol (Lausanne). 2022 Dec 12;13:1064024
pubmed: 36578966
N Engl J Med. 2020 Sep 24;383(13):1248-1261
pubmed: 32966723
J Clin Invest. 1988 Jul;82(1):139-44
pubmed: 3267225
J Steroid Biochem Mol Biol. 2020 Apr;198:105554
pubmed: 31805392
Horm Metab Res. 2019 Sep;51(9):586-594
pubmed: 31505704
Front Endocrinol (Lausanne). 2019 Oct 02;10:681
pubmed: 31632355
Anal Biochem. 2011 Jun 15;413(2):133-41
pubmed: 21324303
Mol Biol Rep. 2020 Apr;47(4):3049-3052
pubmed: 32185686
Eur J Hum Genet. 2020 Oct;28(10):1341-1367
pubmed: 32616876
J Clin Endocrinol Metab. 2001 Jun;86(6):2845-8
pubmed: 11397897
Clin Endocrinol (Oxf). 2006 Mar;64(3):330-6
pubmed: 16487445
Int J Endocrinol. 2017;2017:8984365
pubmed: 28487735
Hum Genet. 2018 Dec;137(11-12):955-960
pubmed: 30465166
Diagn Mol Pathol. 2011 Jun;20(2):123-7
pubmed: 21532487
J Clin Endocrinol Metab. 2015 Aug;100(8):E1143-52
pubmed: 26075496
Genomics. 2004 May;83(5):944-50
pubmed: 15081125
Clin Chim Acta. 2013 Sep 23;424:85-9
pubmed: 23721949