Qin Guijun, Ji Hongfei, Li Xialian, Ma Xiaokun, Wang Danping
J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):809-14. doi: 10.1515/jpem-2014-0156.
To analyze the DAX1 (NR0B1) (dosage-sensitive sex reversal-adrenal hypoplasia congenita (AHC) critical region on the X chromosome gene 1) gene in two Chinese families with AHC and hypogonadotrophic hypogonadism (HHG).
Two families with 4 affected males, 5 carrier females, and 4 unaffected males were investigated. Sequencing of the entire 1413-bp coding region of DAX1 (NR0B1) gene was performed in both patients and their family members.
Two different novel DAX1 (NR0B1) mutations located within exon 1, an insertional mutation at codon 35 leading to a frameshift and a premature stop at codon 46, and a deletion mutation at codon 331 leading to a frameshift and a premature stop at codon 371 were detected. The mothers and sisters of the patients were heterozygotes for the mutations, while their fathers did not carry the mutations.
Two novel DAX1 (NR0B1) mutations were detected in two Chinese families. These data indicate that molecular analysis of the DAX1 (NR0B1) gene is important for the diagnosis and genetic counseling of children with primary adrenal insufficiency.
分析两个患有先天性肾上腺发育不全（AHC）和低促性腺激素性性腺功能减退（HHG）的中国家系中的DAX1（NR0B1）（X染色体基因1上的剂量敏感性性反转 - 先天性肾上腺发育不全关键区域）基因。
对两个家系进行调查，其中有4名患病男性、5名携带突变基因的女性和4名未患病男性。对患者及其家庭成员的DAX1（NR0B1）基因的整个1413bp编码区进行测序。
检测到两个位于外显子1内的不同的新型DAX1（NR0B1）突变，一个是第35密码子处的插入突变，导致移码并在第46密码子处提前终止；另一个是第331密码子处的缺失突变，导致移码并在第371密码子处提前终止。患者的母亲和姐妹为突变杂合子，而他们的父亲不携带该突变。
在两个中国家系中检测到两个新型DAX1（NR0B1）突变。这些数据表明，DAX1（NR0B1）基因的分子分析对于原发性肾上腺功能不全患儿的诊断和遗传咨询具有重要意义。
