Connexion

GENATLAS PHENOTYPE

last update : 13/06/2006

Symbol	AIS
Location	Xq11.21-q12.1
Name	androgen insensitivity syndrome
Other name(s)	androgen resistance syndrome . testicular feminization . Reifenstein syndrome
Corresponding gene	AR
Other symbol(s)	AIS
Main clinical features	undermasculinization in presence of a 46, XY karyotype and normal testes . three broad phenotypes corresponding to a spectrum of defects in androgen action : - complete AIS with typical female genitalia - partial AIS with predominantly female, predominantly male or ambiguous genitalia - mild AIS with typical male genitalia
Genetic determination	sex linked
Related entries	SBMA
Function/system disorder	endocrinology
Type	malformation

Gene product

Name

androgen receptor

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments

missense			Over 300 point mutations have been found with a majority of missense mutations impairing androgen binding
nonsense			truncating mutations in exon 1 almost always cause CAIS
repeat expansion			increased CAG repeat length in the infertile males and in moderate to severe undermasculinized genitalia in XY males

Remark(s)

expansion of the polyglutamine tract (>40 CAG) causes spinobulbar muscular atrophy (SBMA) . disrupted N-/C-terminal interaction of AR is capable of providing the mechanism for androgen-insensitivity syndrome in most cases where the mutation in theligand binding domain does not disrupt ligand binding