PMID- 10323730
OWN - NLM
STAT- MEDLINE
DCOM- 19990706
LR  - 20101118
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 84
IP  - 2
DP  - 1999 May 21
TI  - Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked
      congenital adrenal hypoplasia.
PG  - 87-9
AB  - We identified a DAX1 missense mutation, a substitution of arginine for leucine at
      codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia
      (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother 
      and sister. Since leucine at position 466 is well conserved among other orphan
      nuclear hormone receptor superfamilies and Leu466Arg was not detected among 50
      normal Japanese control individuals, the mutation is most likely responsible for 
      X-linked AHC. It is interesting to note that Leu466Arg among all mutations ever
      reported is located at the most C-terminal region of the DAX-1 protein. Most
      mutations identified previously were located in the C-terminal presumptive ligand
      binding domain. Hence, the C-terminal end of the DAX-1 protein may play an
      important role in the biological function, such as in normal adrenal
      embryogenesis.
FAU - Abe, S
AU  - Abe S
AD  - Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan.
FAU - Nakae, J
AU  - Nakae J
FAU - Yasoshima, K
AU  - Yasoshima K
FAU - Tajima, T
AU  - Tajima T
FAU - Shinohara, N
AU  - Shinohara N
FAU - Murashita, M
AU  - Murashita M
FAU - Satoh, K
AU  - Satoh K
FAU - Koike, A
AU  - Koike A
FAU - Takahashi, Y
AU  - Takahashi Y
FAU - Fujieda, K
AU  - Fujieda K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DAX-1 Orphan Nuclear Receptor)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (NR0B1 protein, human)
RN  - 0 (Receptors, Retinoic Acid)
RN  - 0 (Repressor Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adrenal Insufficiency/*genetics
MH  - DAX-1 Orphan Nuclear Receptor
MH  - DNA-Binding Proteins/*genetics
MH  - Genetic Linkage
MH  - Humans
MH  - Infant
MH  - Male
MH  - *Mutation, Missense
MH  - Point Mutation
MH  - Receptors, Retinoic Acid/*genetics
MH  - *Repressor Proteins
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/*genetics
MH  - *X Chromosome
EDAT- 1999/05/14 02:03
MHDA- 2000/06/20 09:00
CRDT- 1999/05/14 02:03
PHST- 1999/05/14 02:03 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1999/05/14 02:03 [entrez]
AID - 10.1002/(SICI)1096-8628(19990521)84:2<87::AID-AJMG1>3.0.CO;2-7 [pii]
PST - ppublish
SO  - Am J Med Genet. 1999 May 21;84(2):87-9.