The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea.
10.3346/jkms.2011.26.1.146
- Author:
Ki Wook YUN
1
;
Soo Ahn CHAE
;
Jung Ju LEE
;
Sin Weon YUN
;
Byoung Hoon YOO
;
In Seok LIM
;
Eung Sang CHOI
;
Mi Kyung LEE
Author Information
1. Department of Pediatrics, Chung-Ang University College of Medicine, Seoul, Korea. kidbrain@korea.com
- Publication Type:Case Report
- Keywords:
Alpha-Thalassemia;
Mental Retardation, X-Linked;
ATRX;
Hemoglobin H
- MeSH:
Amino Acid Substitution;
Body Dysmorphic Disorders/complications;
Child, Preschool;
DNA Mutational Analysis;
Epilepsy/complications;
Exons;
Hemoglobin H/*genetics;
Humans;
Male;
Mental Retardation/complications;
Mental Retardation, X-Linked/complications/diagnosis/genetics;
Point Mutation;
Republic of Korea;
alpha-Thalassemia/complications/diagnosis/genetics
- From:Journal of Korean Medical Science
2011;26(1):146-149
- CountryRepublic of Korea
- Language:English
-
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.
