Androgen insensitivity syndrome due to new mutations in the DNA-binding domain of the androgen receptor

1996 ◽  
Vol 120 (1) ◽  
pp. 15-24 ◽  
Author(s):  
Kyosuke Imasaki ◽  
Taijiro Okabe ◽  
Hiroshi Murakami ◽  
Yoko Tanaka ◽  
Masafumi Haji ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Dna Binding ◽  
Androgen Insensitivity Syndrome ◽  
Binding Domain ◽  
Dna Binding Domain ◽  
Androgen Insensitivity ◽  
New Mutations

Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

2017 ◽  
Vol 11 (1) ◽  
pp. 40-45 ◽  
Author(s):  
G. Eastman Welsford ◽  
Rikke Munk ◽  
Daniel A.F. Villagómez ◽  
Poul Hyttel ◽  
W. Allan King ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Dna Binding ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Binding Domain ◽  
Dna Binding Domain ◽  
Androgen Insensitivity

Response to Treatment in Patients with Partial Androgen Insensitivity due to Mutations in the DNA-Binding Domain of the Androgen Receptor

2000 ◽  
Vol 53 (2) ◽  
pp. 83-88 ◽  
Author(s):  
Yvonne Lundberg Giwercman ◽  
Andrej Nikoshkov ◽  
Kristina Lindsten ◽  
Birgitta Byström ◽  
Åke Pousette ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Dna Binding ◽  
Binding Domain ◽  
Response To Treatment ◽  
Dna Binding Domain ◽  
Androgen Insensitivity

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

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Kok-Siong Poon ◽  
Karen Mei-Ling Tan ◽  
Kah Yin Loke
Keyword(s):  
Androgen Receptor ◽  
Dna Binding ◽  
Nonsense Mutation ◽  
De Novo ◽  
Androgen Insensitivity Syndrome ◽  
De Novo Mutation ◽  
Dna Binding Domain ◽  
Exon 2 ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

AbstractAn 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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