PMID- 10502786
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20061115
IS  - 1098-1004 (Electronic)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 4
DP  - 1999 Oct
TI  - A novel point mutation (R840S) in the androgen receptor in a Brazilian family
      with partial androgen insensitivity syndrome.
PG  - 353
AB  - Mutations of the androgen receptor gene causing androgen insensitivity syndrome
      in 46, XY individuals, result in phenotypes ranging from complete female to
      ambiguous genitalia to males with minor degrees of undervirilization. We studied 
      two Brazilian brothers with partial androgen insensitivity syndrome. They were
      born with perineal hypospadias, bifid scrotum, small penis and cryptorchidism,
      and developed gynecomastia at puberty. Genomic DNA was extracted and
      denaturinggradient gel electrophoresis of exon 7 of the androgen receptor gene
      followed by sequence analysis revealed a new mutation, a C A transversion,
      altering codon 840 from arginine (CGT) to serine (AGT). R840 is located in the
      androgen binding domain, in a "hot spot" region, important for the formation and 
      function of the hormone receptor-complex and within the region that is involved
      in androgen receptor dimerization. Replacement of arginine (basic) by serine
      (neutral and polar) is a nonconservative substitution. Three mutations in this
      residue (R840C, R840G nonconservative and R840H, conservative) were previously
      reported in patients with partial androgen insensitivity syndrome and when
      expressed "in vitro" lead to a subnormal transactivation of a reporter gene. We
      conclude that the novel R840 mutation in the androgen receptor is the cause of
      partial androgen insensitivity syndrome in this Brazilian family.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Melo, K F
AU  - Melo KF
AD  - Hospital das Clinicas, Laboratorio de Hormonios e Genetica Molecular (LIM 42),
      Universidade de Sao Paulo, Sao Paulo, Brasil.
FAU - Latronico, A C
AU  - Latronico AC
FAU - Costa, E M
AU  - Costa EM
FAU - Billerbeck, A E
AU  - Billerbeck AE
FAU - Mendonca, B B
AU  - Mendonca BB
FAU - Arnhold, I J
AU  - Arnhold IJ
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (Receptors, Androgen)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Androgen-Insensitivity Syndrome/*genetics
MH  - Female
MH  - Humans
MH  - Male
MH  - Point Mutation
MH  - Receptors, Androgen/*genetics
MH  - *X Chromosome
EDAT- 1999/09/30 00:00
MHDA- 1999/09/30 00:01
CRDT- 1999/09/30 00:00
PHST- 1999/09/30 00:00 [pubmed]
PHST- 1999/09/30 00:01 [medline]
PHST- 1999/09/30 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7 [pii]
AID - 10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7 [doi]
PST - ppublish
SO  - Hum Mutat. 1999 Oct;14(4):353. doi:
      10.1002/(SICI)1098-1004(199910)14:4<353::AID-HUMU16>3.0.CO;2-7.