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KMID : 0191120110260010146
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Journal of Korean Medical Science
2011 Volume.26 No. 1 p.146 ~ p.149
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The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea
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Yun Ki-Wook
Chae Soo-Ahn
Lee Jung-Ju
Yun Sin-Weon
Yoo Byoung-Hoon
Lim In-Seok
Choi Eung-Sang
Lee Mi-Kyung
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Abstract
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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.
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KEYWORD
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Alpha-Thalassemia, Mental Retardation, X-Linked, ATRX, Hemoglobin H
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