AI Article Synopsis
- An infant with a 46,XY karyotype displayed female physical characteristics but had testes located in the inguinal regions.
- Capillary sequencing revealed a new hemizygous mutation in the androgen receptor gene that leads to a premature stop codon in the DNA binding domain.
- This novel mutation contributes to the list of mutations associated with complete androgen insensitivity syndrome (AIS).
Article Abstract
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 resulting in a termination codon p.(Glu541*) at the DNA binding domain (DBD). This novel nonsense mutation adds to the compendium of AR mutations which result in complete androgen insensitivity syndrome (AIS).
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410801 | PMC |
| http://dx.doi.org/10.1038/s41439-021-00167-5 | DOI Listing |
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