Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita.
X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG, L295P, 926-927delTG, 1130delA, 1141-1155del15, and E428X). Two additional families segregate previously identified NR0B1 mutations (501delA and R425T). Sequence analysis of the mitochondrial D-loop indicates that the 501delA family is unrelated through matrilineal descent to our previously analyzed 501delA family.
Zhang
Y H
YH
Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095-1752, USA.
Huang
B L
BL
Anyane-Yeboa
K
K
Carvalho
J A
JA
Clemons
R D
RD
Cole
T
T
De Figueiredo
B C
BC
Lubinsky
M
M
Metzger
D L
DL
Quadrelli
R
R
Repaske
D R
DR
Reyno
S
S
Seaver
L H
LH
Vaglio
A
A
Van Vliet
G
G
McCabe
L L
LL
McCabe
E R
ER
Phelan
J K
JK
D000309:Adrenal Insufficiency / Q000151:congenital / Q000235:genetics*; D018389:Codon, Nonsense; D057137:DAX-1 Orphan Nuclear Receptor; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D016368:Frameshift Mutation; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
D018389:Codon, Nonsense; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; C539965:NR0B1 protein, human; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D014157:Transcription Factors; D004247:DNA