Detection of a novel severe mutation affecting the CYP21A2 gene in a Chilean male with salt wasting congenital adrenal hyperplasia.

Eugenio ArteagaFelipe ValenzuelaCarlos F LagosMarcela LagosAlejandra MartinezRene BaudrandCristian CarvajalCarlos E Fardella

Published in: Endocrine (2019)

We present an adult man with an SWCAH due to 21-OHD who carried three severe mutations of the CYP21A2 gene, one of them, p.Trp86* (c.258G>A) has not been previously described.

Keyphrases

copy number
genome wide
early onset
genome wide identification
dna methylation
gene expression
loop mediated isothermal amplification
label free
real time pcr
transcription factor
sensitive detection