| Autor: |
Yuan, Xiao, Jun, Yang, Hui-jie, Zhang, Wei, Wang, Xiao-ying, Li, De-fen, Wang, Zhi-ya, Dong, Xiu-min, Wang |
| Rok vydání: |
2008 |
| Předmět: |
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| Zdroj: |
Zhonghua er ke za zhi = Chinese journal of pediatrics. 45(12) |
| ISSN: |
0578-1310 |
| Popis: |
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 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.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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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