CLC number: R586
On-line Access: 2015-11-04
Received: 2014-11-25
Revision Accepted: 2015-04-16
Crosschecked: 2015-10-21
Cited: 0
Clicked: 4624
Zhe Zhang, Ye Feng, Dan Ye, Cheng-jiang Li, Feng-qin Dong, Ying Tong. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene[J]. Journal of Zhejiang University Science B, 2015, 16(11): 963-968.
@article{title="Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene",
author="Zhe Zhang, Ye Feng, Dan Ye, Cheng-jiang Li, Feng-qin Dong, Ying Tong",
journal="Journal of Zhejiang University Science B",
volume="16",
number="11",
pages="963-968",
year="2015",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1400322"
}
%0 Journal Article
%T Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene
%A Zhe Zhang
%A Ye Feng
%A Dan Ye
%A Cheng-jiang Li
%A Feng-qin Dong
%A Ying Tong
%J Journal of Zhejiang University SCIENCE B
%V 16
%N 11
%P 963-968
%@ 1673-1581
%D 2015
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1400322
TY - JOUR
T1 - Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene
A1 - Zhe Zhang
A1 - Ye Feng
A1 - Dan Ye
A1 - Cheng-jiang Li
A1 - Feng-qin Dong
A1 - Ying Tong
J0 - Journal of Zhejiang University Science B
VL - 16
IS - 11
SP - 963
EP - 968
%@ 1673-1581
Y1 - 2015
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1400322
Abstract: congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation (1268delA) of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.
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