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Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita
Author(s) -
Zhang YaoHua,
Huang BingLing,
AnyaneYeboa 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.
Publication year - 2001
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.1236
Subject(s) - biology , genetics , gene , mutation , hypogonadotropic hypogonadism , endocrinology , hormone
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.