Analysis of exon 1 mutations in the androgen receptor gene

Aetiological diagnosis of male sex ambiguity: a collaborative study

“…Patients with PAIS are more dicult to recognise and had our study not bene®ted from funds allowing systematic sequencing of the androgen receptor, many would have been missed, particularly those with small testes and/or low output of testicular hormones (E10, S26). Most mutations are located in exons 2±8, very few in exon 1 [15], this corresponds to our ®ndings since only one mutation out of the ten leading to PAIS was located in exon 1 (E35). An insertion in codon 522 led to a stop mutation seven codons downstream; this patient has therefore no exon 1.…”

The in Vivo Role of Androgen Receptor SUMOylation as Revealed by Androgen Insensitivity Syndrome and Prostate Cancer Mutations Targeting the Proline/Glycine Residues of Synergy Control Motifs

“…This exact mutation was also isolated in a patient with testicular cancer (31). Similarly, a P390D (32) and a P390R in combination with Q443R (8) were reported to be associated with complete AIS. Pro-390 lies immediately downstream of the core of the first SC motif (Fig.…”

A novel mutation c.118delA in exon 1 of the androgen receptor gene resulting in complete androgen insensitivity syndrome within a large family

“…The great majority of mutations in exon 1 of the AR gene are either nonsense mutations or small deletions or insertions that frameshift to nonsense. They almost always cause CAIS (17). The novel mutation identified in this study belongs to the latter group of mutations.…”

“…1B). This mutation leads to a frameshift from residue 40 and a truncated protein of 172 amino acids, with loss of the DNA-binding domain (DBD) and ligand-binding domain (LBD) domain and the majority of the N-terminal transactivation domain (NTD), including the dimerization zone, the transactivation domain AF-1a, and binding sites for GAPDH and NJ (17). The predicted effect of this loss-of-function mutation is represented in Figure 1C.…”