Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Case report: Identification of a frameshift mutation in GC enrichment and the GCC repeat region of the androgen insensitivity receptor (AR) gene in a patient with complete androgen insensitivity syndrome by whole-exome sequencing (WES) combined with specific PCR and deep sequencing

Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700). Genetic testing is important in the diagnosis, clinical management, and preventi...

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Bibliographic Details
Main Authors: Xiaojing He, Qingya Ma, Qiaoli Zhang, Xutao Hong, Ming Qi, Yongkai Li, Xiaodong Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-11-01
Series:Frontiers in Genetics
Subjects:
complete androgen insensitivity syndrome
androgen receptor
whole-exome sequencing
deep sequencing
reproductive chimerism
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1038997/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1038997/full

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