✦ LIBER ✦

Nine novel mutations in NR0B1 (DAX1) causing adrenal hypoplasia congenita

✍ Scribed by Yao-Hua Zhang; Bing-Ling Huang; Kwame Anyane-Yeboa; Julienne A.R. Carvalho; Robert D. Clemons; Trevor Cole; Bonald C. De Figueiredo; Mark Lubinsky; Daniel L. Metzger; Roberto Quadrelli; David R. Repaske; Soraya Reyno; Laurie H. Seaver; Alicia Vaglio; Guy Van Vliet; Linda L. McCabe; Edward R.B. McCabe; James K. Phelan

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 28 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1236

No coin nor oath required. For personal study only.

✦ Synopsis

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 p reviously 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.

📜 SIMILAR VOLUMES

Thirteen novel mutations in the NR0B1 (D

Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita

✍ Nils Krone; Felix Günther Riepe; Helmuth-Günther Dörr; Michel Morlot; Karl-Heinz 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 95 KB

Mutations in NR0B1 (DAX1) and NR5A1 (SF1

Mutations in NR0B1 (DAX1) and NR5A1 (SF1) responsible for adrenal hypoplasia congenita

✍ James K. Phelan; Edward R.B. Mccabe 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 364 KB

Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene, at Xp2

A novel DAX1 gene mutation in a Turkish

A novel DAX1 gene mutation in a Turkish infant with X-linked adrenal hypoplasia congenita

✍ Esra Arun Ozer; Aysun Kaya; Munevver Yildirimer; Ozlem Guler; Sule Can; Halil Ay 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 72 KB

Late-onset adrenal hypoplasia congenita

Late-onset adrenal hypoplasia congenita caused by a novel mutation of theDAX-1gene

✍ Fan Yang; Keiichi Hanaki; Tomoe Kinoshita; Yuki Kawashima; Jun-ichi Nagaishi; Su 📂 Article 📅 2008 🏛 Springer 🌐 English ⚖ 112 KB

Novel mutation of theDAX1 gene in a pati

Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

✍ Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc

Inappropriate tall stature and renal ect

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

✍ Adriana Franzese; Nicola Brunetti-Pierri; Raffaella Spadaro; Tokuo Mukai; Giulia 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 2 views