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.
Artículo
en Chino
| 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>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Proteínas Represoras
/
Receptores de Ácido Retinoico
/
Hiperplasia Suprarrenal Congénita
/
Enfermedades Genéticas Ligadas al Cromosoma X
/
Pueblo Asiatico
/
Receptor Nuclear Huérfano DAX-1
/
Genética
/
Mutación
Tipo de estudio:
Estudio pronóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Pediatrics
Año:
2007
Tipo del documento:
Artículo
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