A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant
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...
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Veröffentlicht in: | Human genome variation 2021-09, Vol.8 (1), p.35-3, Article 35 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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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ISSN: | 2054-345X 2054-345X |
DOI: | 10.1038/s41439-021-00167-5 |