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

Poon, Kok-Siong; Tan, Karen Mei-Ling; Loke, Kah Yin

Poon, Kok-Siong; Tan, Karen Mei-Ling; Loke, Kah Yin.

Afiliación

Poon KS; Department of Laboratory Medicine, National University Hospital, Singapore, Singapore. kok_siong_poon@nuhs.edu.sg.
Tan KM; Department of Laboratory Medicine, National University Hospital, Singapore, Singapore.
Loke KY; Division of Paediatric Endocrinology, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore, Singapore.

Hum Genome Var ; 8(1): 35, 2021 Sep 01.

Article en En | MEDLINE | ID: mdl-34471093

RESUMEN

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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Hum Genome Var Año: 2021 Tipo del documento: Article País de afiliación: Singapur Pais de publicación: Reino Unido

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