The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
Journal of Korean Medical Science
;
: 146-149, 2011.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Hemoglobina H
/
Análise Mutacional de DNA
/
Éxons
/
Mutação Puntual
/
Talassemia alfa
/
Substituição de Aminoácidos
/
Deficiência Intelectual Ligada ao Cromossomo X
/
Epilepsia
/
Transtornos Dismórficos Corporais
/
República da Coreia
Limite:
Criança, pré-escolar
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2011
Tipo de documento:
Artigo
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