Identification of Novel Mutations of the DAX-1 Gene in Patients with X-Linked Adrenal Hypoplasia Congenita

2005 ◽  
Vol 63 (4) ◽  
pp. 200-205 ◽  
Author(s):  
Jin-Ho Choi ◽  
Young-Lim Shin ◽  
Gu-Hwan Kim ◽  
Youngho Kim ◽  
Sangwook Park ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia ◽  
I Gene

Novel Mutations in DAX1 of X-Linked Adrenal Hypoplasia Congenita Over Several Generations in One Family

2013 ◽  
Vol 19 (4) ◽  
pp. e105-e111 ◽  
Author(s):  
Xu Xiao-qin ◽  
Feng Yue-ying ◽  
Yuan Wen-xia ◽  
Huang Ke ◽  
Liang Li ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

2015 ◽  
Vol 28 (7-8) ◽  
Author(s):  
Guijun Qin ◽  
Hongfei Ji ◽  
Xialian Li ◽  
Xiaokun Ma ◽  
Danping Wang
Keyword(s):  
Hypogonadotropic Hypogonadism ◽  
Coding Region ◽  
Novel Mutations ◽  
Chinese Families ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

AbstractTo analyze theTwo families with 4 affected males, 5 carrier females, and 4 unaffected males were investigated. Sequencing of the entire 1413-bp coding region ofTwo different novelTwo novel

scholarly journals Thirteen novel mutations in theNR0B1(DAX1) gene as cause of adrenal hypoplasia congenita

2005 ◽  
Vol 25 (5) ◽  
pp. 502-502 ◽  
Author(s):  
Nils Krone ◽  
Felix Günther Riepe ◽  
Helmuth-Günther Dörr ◽  
Michel Morlot ◽  
Karl-Heinz Rudorff ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals Nine novel mutations inNR0B1 (DAX1) causing adrenal hypoplasia congenita

2001 ◽  
Vol 18 (6) ◽  
pp. 547-547 ◽  
Author(s):  
Yao-Hua Zhang ◽  
Bing-Ling Huang ◽  
Kwame Anyane-Yeboa ◽  
Julienne A.R. Carvalho ◽  
Robert D. Clemons ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

Novel Mutations in the EPO-R, VHL Genes and a Reported Mutation in EPAS1 Gene in the Congenital Erythrocytosis Patients in a Southern State of India

2019 ◽  
Author(s):  
Chodimella Chandrasekhar ◽  
Pasupuleti Santhosh Kumar ◽  
Potukuchi Venkata Gurunadha Krishna Sarma
Keyword(s):  
Novel Mutations ◽  
Southern State ◽  
I Gene

Delayed diagnosis of adrenal hypoplasia congenita in two adult brothers

1995 ◽  
Vol 28 (3) ◽  
pp. 333
Author(s):  
V. Chetty ◽  
J.D. Booth ◽  
E. Dunn ◽  
S. Hill ◽  
G. Luxton
Keyword(s):  
Delayed Diagnosis ◽  
Adrenal Hypoplasia Congenita ◽  
Adrenal Hypoplasia

scholarly journals A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

2012 ◽  
Vol 56 (8) ◽  
pp. 496-500 ◽  
Author(s):  
Claudilene Battistin ◽  
Hamilton Cabral de Menezes Filho ◽  
Sorahia Domenice ◽  
Mirian Yumie Nishi ◽  
Thais Della Manna ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Hypogonadotropic Hypogonadism ◽  
Failure To Thrive ◽  
The Novel ◽  
Site Analysis ◽  
Adrenal Hypoplasia Congenita ◽  
Normal Individuals ◽  
Exon 1 ◽  
Adrenal Hypoplasia ◽  
Low Levels

We report a case of adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism (HH) due to a novel DAX1 mutation. A 19-month-old boy with hyperpigmentation and failure to thrive came to our service for investigation. Three brothers of the patient had died due to adrenal failure, and a maternal cousin had adrenal insufficiency. Adrenoleukodystrophy was excluded. MRI showed normal pituitary and hypothalamus. Plasma hormone evaluation revealed high ACTH (up to 2,790 pg/mL), and low levels of androstenedione, DHEA-S, 11-deoxycortisol, and cortisol. At 14 years of age the patient was still prepubescent, his weight was 43.6 kg (SDS: -0.87) and his height was 161 cm (SDS: -0.36), with normal body proportions. In the GnRH test, basal and maximum values of LH and FSH were respectively 0.6/2.1 and < 1.0/< 1.0 U/L. Molecular investigation identified a novel mutation that consists of a deletion of codon 372 (AAC; asparagine) in exon 1 of DAX1. This mutation was not found in a study of 200 alleles from normal individuals. Prediction site analysis indicated that this alteration, located in the DAX1 ligand-binding domain, may damage DAX1 protein. We hypothesize that the novel (p.Asp372del) DAX1 mutation might be able to cause a disruption of DAX1 function, and is probably involved in the development of AHC and HH in this patient. Arq Bras Endocrinol Metab. 2012;56(8):496-500

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