Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita

• Published in: Zhonghua er ke za zhi Vol. 45; no. 12; p. 937
• Main Authors: Xiao, Yuan, Yang, Jun, Zhang, Hui-jie, Wang, Wei, Li, Xiao-ying, Wang, De-fen, Dong, Zhi-ya, Wang, Xiu-min
• Format: Journal Article
• Language: Chinese
• Published: China 01.12.2007
• Subjects: Adrenal Hyperplasia, Congenital - genetics; Asian Continental Ancestry Group - genetics; Child; DAX-1 Orphan Nuclear Receptor - genetics; Genetic Diseases, X-Linked - genetics; Humans; Male; Mutation; Pedigree; Receptors, Retinoic Acid - genetics; Repressor Proteins - genetics
• ISSN: 0578-1310

Inactivating mutations of DAX-1 give rise to the X-linked form of adrenal hypoplasia congenita (AHC). Affected individuals are at risk of early postnatal Addisonian crisis, but the variable phenotypic expression of DAX-1 insufficiency renders this diagnosis challenging. This study aimed to understand the clinical features and identify DAX-1 gene mutation of the affected individuals and their relatives in a Chinese adrenal hypoplasia congenita kindred. The proband was diagnosed as adrenal insufficiency shortly after birth and his elder cousin was also diagnosed as having this disease at the age of about 8 years. Clinical data were obtained from 2 affected individuals when they were hospitalized into the department of pediatrics, Ruijin Hospital in 2006; 20 peripheral blood samples were obtained from the affected individuals and their relatives; exons in DAX-1 gene were amplified, and PCR product was purified and sequenced directly for analyzing mutation. A novel hemizygous mutation (T785C) was found in DAX-1 g