The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

• Published in: International journal of molecular sciences Vol. 21; no. 21; p. 8403
• Main Authors: Ilaslan, Erkut, Markosyan, Renata, Sproll, Patrick, Stevenson, Brian J, Sajek, Malgorzata, Sajek, Marcin P, Hayrapetyan, Hasmik, Sarkisian, Tamara, Livshits, Ludmila, Nef, Serge, Jaruzelska, Jadwiga, Kusz-Zamelczyk, Kamila
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI 09.11.2020; MDPI AG
• Subjects: Amino Acid Sequence; Amino Acid Substitution - genetics; androgen insensitivity syndrome (AIS); androgen receptor signaling; Androgen-Insensitivity Syndrome - genetics; Child; Communication; disorder of sexual development (DSD); Exome - genetics; FKBP4; Humans; Male; Mutation - genetics; partial androgen insensitivity syndrome (PAIS); Receptors, Androgen - genetics; Sexual Development - genetics; Signal Transduction - genetics; Tacrolimus Binding Proteins - genetics; partial androgen insensitivity syndrome (PAIS); disorder of sexual development (DSD); androgen receptor signaling; FKBP4; androgen insensitivity syndrome (AIS)

Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for mutations is a routine approach in AIS diagnosis. However, some AIS patients lack mutations, which complicates the diagn...