Xu Min, Wang You-min, Xing Xue-nong, Zhou Xiao-hui
Department of Endocrinology, the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, 230022 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):11-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.003.
To investigate the clinical features and to identify the DAX-1 gene mutation in a Chinese kindred with X-linked adrenal hypoplasia congenital(AHC).
Clinical data and peripheral blood samples were obtained from the affected individuals and their relatives. The genomic DNA was isolated from whole blood. Four pairs of primers were used to amplify the two exons of the DAX-1 gene, and PCR products were purified and sequenced directly. Sequencing results were compared to the human DAX-1 sequence in the public database.
A novel hemizygous frameshift mutation (428delG) in exon 1 of the DAX-1 gene was found in both patients (the index case and his cousin). Some clinical features such as the age of onset were different although these 2 patients carried the same mutation. Three females in the family, including the mothers of the 2 patients and their grandmother were carriers of this mutation. No such mutation was detected in other healthy persons in the family.
The result suggested that X-linked AHC in the kindred was caused by a novel mutation of 428delG in the DAX-1 gene, and the same mutation can give rise to variable phenotypes.
研究一个患有X连锁先天性肾上腺发育不全（AHC）的中国家系的临床特征，并鉴定DAX-1基因突变情况。
获取患病个体及其亲属的临床资料和外周血样本。从全血中提取基因组DNA。使用四对引物扩增DAX-1基因的两个外显子，PCR产物经纯化后直接测序。将测序结果与公共数据库中的人类DAX-1序列进行比较。
在两名患者（先证者及其表弟）中均发现了DAX-1基因第1外显子的一种新的半合子移码突变（428delG）。尽管这两名患者携带相同的突变，但一些临床特征如发病年龄有所不同。该家系中的三名女性，包括两名患者的母亲及其祖母，是这种突变的携带者。在该家系的其他健康个体中未检测到这种突变。
结果表明，该家系中的X连锁AHC是由DAX-1基因的一种新突变428delG引起的，并且相同的突变可导致不同的表型。
