The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
Journal of Korean Medical Science
;
: 146-149, 2011.
Artículo
en Inglés
| WPRIM
| ID: wpr-211266
ABSTRACT
Mutation of the ATRX gene leads to X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome and several other X-linked mental retardation syndromes. We report the first case of ATR-X syndrome documented here in Korea. A 32-month-old boy came in with irritability and fever. He showed dysmorphic features, mental retardation and epilepsy, so ATR-X syndrome was considered. Hemoglobin H inclusions in red blood cells supported the diagnosis and genetic studies confirmed it. Mutation analysis for our patient showed a point mutation of thymine to cytosine on the 9th exon in the ATRX gene, indicating that Trp(C), the 220th amino acid, was replaced by Ser(R). Furthermore, we investigated the same mutation in family members, and his mother and two sisters were found to be carriers.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Hemoglobina H
/
Análisis Mutacional de ADN
/
Exones
/
Mutación Puntual
/
Talasemia alfa
/
Sustitución de Aminoácidos
/
Discapacidad Intelectual Ligada al Cromosoma X
/
Epilepsia
/
Trastorno Dismórfico Corporal
/
República de Corea
Límite:
Child, preschool
/
Humanos
/
Masculino
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2011
Tipo del documento:
Artículo
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