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,...

Full description

Saved in:
Bibliographic Details
Published in:Human mutation 2001-12, Vol.18 (6), p.547-547
Main Authors: Zhang, Yao-Hua, Huang, Bing-Ling, Anyane-Yeboa, Kwame, Carvalho, Julienne A.R., Clemons, Robert D., Cole, Trevor, De Figueiredo, Bonald C., Lubinsky, Mark, Metzger, Daniel L., Quadrelli, Roberto, Repaske, David R., Reyno, Soraya, Seaver, Laurie H., Vaglio, Alicia, Van Vliet, Guy, McCabe, Linda L., McCabe, Edward R.B., Phelan, James K.
Format: Article
Language:English
Subjects:
adrenal hypoplasia congenita
Adrenal Insufficiency - congenital
Adrenal Insufficiency - genetics
AHC
Codon, Nonsense
DAX-1 Orphan Nuclear Receptor
DAX1
DNA - chemistry
DNA - genetics
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Frameshift Mutation
Humans
Mutation
Mutation, Missense
NR0B1
Receptors, Retinoic Acid - genetics
Repressor Proteins
Sequence Deletion
Transcription Factors - genetics
X-linked
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2001 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.1236