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[Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita].
Xiao, Yuan; Yang, Jun; Zhang, Hui-jie; Wang, Wei; Li, Xiao-ying; Wang, De-fen; Dong, Zhi-ya; Wang, Xiu-min.
Affiliation
  • Xiao Y; Department of Pediatrics, Laboratory of Pediatrics, Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China.
Zhonghua Er Ke Za Zhi ; 45(12): 937-41, 2007 Dec.
Article in Zh | MEDLINE | ID: mdl-18339285
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. CONCLUSION: 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.
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Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Hyperplasia, Congenital / Genetic Diseases, X-Linked / DAX-1 Orphan Nuclear Receptor / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male Language: Zh Journal: Zhonghua Er Ke Za Zhi Year: 2007 Document type: Article Affiliation country: China Country of publication: China
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Collection: 01-internacional Database: MEDLINE Main subject: Adrenal Hyperplasia, Congenital / Genetic Diseases, X-Linked / DAX-1 Orphan Nuclear Receptor / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Humans / Male Language: Zh Journal: Zhonghua Er Ke Za Zhi Year: 2007 Document type: Article Affiliation country: China Country of publication: China