title: [Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  A novel hemizygous mutation (T785C) was found in DAX-1 gene in both patients. Some clinical features such as the age of onset were different although these 2 patients carried the same mutation. There were 5 carriers of this mutation in the patients' maternal pedigree.
  
  
  CONCLUSIONS
  The results suggested that adrenal hypoplasia congenita in this kindred was caused by a novel mutation (T785C) in DAX-1 gene, and the same mutation can give rise to the variable phenotype.
authors.affiliation: Department of Pediatrics, Laboratory of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
authors.forename: Yuan
authors.initials: Y
authors.lastname: Xiao
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Hui-jie
authors.initials: HJ
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Xiao-ying
authors.initials: XY
authors.lastname: Li
authors.forename: De-fen
authors.initials: DF
authors.lastname: Wang
authors.forename: Zhi-ya
authors.initials: ZY
authors.lastname: Dong
authors.forename: Xiu-min
authors.initials: XM
authors.lastname: Wang
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018168:Receptors, Retinoic Acid / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins