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A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.

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).

SUBMITTER: Poon KS

PROVIDER: S-EPMC8410801 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant.

Poon Kok-Siong KS Tan Karen Mei-Ling KM Loke Kah Yin KY

Human genome variation 20210901 1

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). ...[more]

PMID: 34471093

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