A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

Girgis, Rose; Ajamian, Faria; Metcalfe, Peter

doi:10.1515/jpem.2011.038

Cited by 2 publications

(1 citation statement)

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“… [ 125 , 103 ] C5 c.634G>C p.(Val212Leu) CM880021 Exon 5 ndea [ 158 , 170 ] C4 c.639dupT p.(Pro214Serfs*) Exon 5 SW [ 104 ] C5 c.652-8T>A Disrupted splice acceptor Intron 5 SW, SV? [ 163 ] C5 c.652-2A>G Disrupted splice acceptor rs372403269 Intron 5 SW [ 149 ] C4 c.662del p.(Asn221fs*) CD138173 Exon 6 SW [ 171 ] C5 c.673C>T p.(Arg225Trp) HM070087 Exon 6 NC [ 172 ] C4 c.676_677del p.(Arg226fs*) Exon 6 SW [ 24 ] C4 c.683dup p.(Gln229Alafs*67) Exon 6 SW [ 173 ] C5 c.685C>T p.(Gln229*) rs72552752 Exon 6 SW [ 174 ] C5 c.692T>C p.(Ile231Thr) CM101304 Exon 6 NC [ 158 ] C5 <...>…”

Section: -Oh Genotypingmentioning

confidence: 99%

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

2020

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Molecular genetic testing for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is offered worldwide and is of importance for differential diagnosis, carrier detection and adequate genetic counseling, particularly for family planning. In 2008 the European Molecular Genetics Quality Network (EMQN) for the first time offered a European-wide external quality assessment scheme for CAH (due to 21-OH deficiency). The interest was great and over the last years at about 60 laboratories from Europe, USA and Australia regularly participated in that scheme. These best practice guidelines were drafted on the basis of the extensive knowledge and experience got from those annually organized CAH-schemes. In order to obtain the widest possible consultation with practicing laboratories the draft was therefore circulated twice by EMQN to all laboratories participating in the EQA-scheme for CAH genotyping and was updated by that input. The present guidelines address quality requirements for diagnostic molecular genetic laboratories, as well as criteria for CYP21A2 genotyping (including carrier-testing and prenatal diagnosis). A key aspect of that article is the use of appropriate methodologies (e.g., sequencing methods, MLPA (multiplex ligation dependent probe amplification), mutation specific assays) and respective limitations and analytical accuracy. Moreover, these guidelines focus on classification of variants, and the interpretation and standardization of the reporting of CYP21A2 genotyping results. In addition, the article provides a comprehensive list of common as well as so far unreported CYP21A2-variants.

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Section: -Oh Genotypingmentioning

confidence: 99%

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

2020

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CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants

et al. 2017

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Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders of adrenal steroidogenesis. Disorders in steroid 21-hydroxylation account for over 95% of patients with CAH. Clinically, the 21-hydroxylase deficiency has been classified in a broad spectrum of clinical forms, ranging from severe or classical, to mild late onset or non-classical.Known allelic variants in the disease causing CYP21A2 gene are spread among different sources.Until recently, most variants reported have been identified in the clinical setting, which presumably bias described variants to pathogenic ones, as those found in the CYPAlleles database. Nevertheless, a large number of variants are being described in massive genome projects, many of which are found in dbSNP, but lack functional implications and/or their phenotypic effect. In this work, we gathered a total of 1,340 GVs in the CYP21A2 gene, from which 899 variants were unique and 230 have an effect on human health, and compiled all this information in an integrated database.We also connected CYP21A2 sequence information to phenotypic effects for all available mutations, including double mutants in cis. Data compiled in the present work could help physicians in the genetic counseling of families affected with 21-hydroxylase deficiency.

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A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia

Cited by 2 publications

References 0 publications

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency

CYP21A2mutation update: Comprehensive analysis of databases and published genetic variants

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