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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: 3606

Citations:  Bibtex RefMan EndNote GB/T7714

 ORCID:

Zhe Zhang

http://orcid.org/0000-0001-8385-4148

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Journal of Zhejiang University SCIENCE B 2015 Vol.16 No.11 P.963-968

http://doi.org/10.1631/jzus.B1400322


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(s):  Zhe Zhang, Ye Feng, Dan Ye, Cheng-jiang Li, Feng-qin Dong, Ying Tong

Affiliation(s):  Department of Endocrinology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China; more

Corresponding email(s):   10518093zz@163.com, tongying216@gmail.com

Key Words:  Congenital X-linked adrenal hypoplasia, Primary adrenal insufficiency, Hypogonadotropic hypogonadism


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.

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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"
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%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
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%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.

伴DAX-1基因新突变的先天性肾上腺发育不良 家系报道

目的:X连锁的先天性肾上腺发育不良(AHC)是一种罕见疾病,主要表现为肾上腺皮质激素的严重缺乏和低促性腺激素型性腺功能不全。该研究的目的在于加强对该病临床表现和分子缺陷的认识。
创新点:不仅完整记录了该家系的临床特征,而且在基因水平加以证实,完善了疾病的基因突变图谱,有助于早期诊断,为基因型与临床表型间相互关系的研究奠定基础。
方法:DAX-1基因的测序法。
结论:DAX-1基因外显子2的1268位腺嘌呤缺失导致 一个新的移码突变。该疾病为X连锁隐形遗传。

关键词:先天性肾上腺发育不良;DAX-1基因;移码突变

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

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