Identification of a novel missense mutation of the DAX-1 gene in a Chinese pedigree with X-linked adrenal hypoplasia congenita / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 937-941, 2007.
Article
in Chinese
| WPRIM
| ID: wpr-249483
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Repressor Proteins
/
Receptors, Retinoic Acid
/
Adrenal Hyperplasia, Congenital
/
Genetic Diseases, X-Linked
/
Asian People
/
DAX-1 Orphan Nuclear Receptor
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Pediatrics
Year:
2007
Type:
Article
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